Updated list of pigmentary genes

Updated List of Pigmentary genes

by: Laura L. Baxter, Lluís Montoliu, William J. Pavan and Stacie K. Loftus

Based on: Baxter, L. L., Watkins-Chow, D. E., Pavan, W. J., & Loftus, S. K. (2019). A curated gene list for expanding the horizons of pigmentation biology. Pigment cell & melanoma research, 32(3), 348–358. https://doi.org/10.1111/pcmr.12743

Current number of genes listed: 688

Last update: 8 December 2022 (previous update was 2 March 2021)

Updated information on these 8 genes: BLOC1S5, CAV1, DCT, KIF13A, MYO6, NNT, OPTN, SOX2
The following 26 new genes were added: ACTR3, AP1G1, AP1M1, BRD9, CLEC12B, CRTC3, DENND5A, DYNLT3, ERC1, FMN1, GNPTAB, HTR2A, MFN2, NPY, OPN3, PI4K2A, PI4K2B, RAB3A, RAB44, RAB6A, SLC7A5, SPIRE1, SPIRE2, TXNRD1, VDAC1, WASHC1

(*) Genomic duplications often result in paralogous genes; if paralogs were present that both show orthology to one of the other species listed here, then both are indicated. The alliancegenome.org links for each gene provide a detailed table describing the criteria used to determine orthologs across species.

The alliancegenome.org links associated with each gene provide a comprehensive resource of information, including: orthology, function - GO annotations, phenotypes, disease associations, alleles and variants, transgenic alleles, models, sequence feature viewer, expression and molecular interactions.

Human gene	Human paralog*	Mouse gene	Mouse paralog*	Zebrafish gene	Zebrafish paralog*	Human disease with hair and/or skin pigmentary phenotype (#OMIM)	Human pigmentation phenotype	Mouse pigmentation phenotype	Zebrafish pigmentation phenotype	Cell-based phenotype / other organism phenotype
ABCA12		Abca12		abca12					Pigmentation disrupted
ABCB6		Abcb6		abcb6a		Dyschromatosis universalis hereditaria 3 (#61402)	Hyperpigmentation and hypopigmentation; symmetrical hyper- and hypopigmented macules that appear in infancy or early childhood on trunk, limbs, and face		Head melanocyte decreased amount
ABHD11		Abhd11		abhd11					Pigment cell quality, abnormal; pigmentation arrested; reduced pigmentation in eye
ACD		Acd						Hyperpigmentation, increased ear and skin and tail pigmentation, adrenocortical dysplasia (acd)
ACTR3		Actr3		actr3b				Mice with a melanocyte-targeted ko of Actr3 (a.k.a. Arp3) show large white patches of fur on dorsal and ventral trunk as well as head, hypopigmentation of limbs and tail; hypopigmentation due to loss of melanocytes during development, PMID: 33028610		Reduced expression of Actr3 in melanoblasts or primary melanocytes causes defective proliferation, migration, PMID: 33028610
ACVR2A		Acvr2a		acvr2aa	acvr2ab			Gray coat color; congenital graying in compound mutant of Bmpr2 (melanocyte-specific ko of Bmpr2) along with germline mutant of Acvr2a, Acvr2a+/-; Bmpr2flox/flox; K14-Cre (conditional), disorganized and clumping pigment present in hair medulla--smaller melanosomes that are still transferred to hair shaft, PMID: 22611050
ADAM10		Adam10		adam10a	adam10b	Reticulate acropigmentation of Kitamura (#615537)	Hyperpigmentation; reticulate macules on dorsa of hands and feet	Freckle-like macules occur in hairless mice that are heterozygous for the Pied mutation, which is a deletion in Adam10, PMID: 22834956
ADAM17		Adam17		adam17a	adam17b			Irregular and dense pigmentation patterns within pelage hairs, altered hair follicle morphology
ADAMTS20		Adamts20 (1)						White spotting, belly spot, belted (bt)
ADAMTS9		Adamts9		adamts9				More reduced melanoblast number seen in Adamts20+/- mice or Adamts20-/- mice that were also haploinsufficient for Adamts9, as compared to Adamts20 mutation alone, PMID: 18454205
ADAR		Adar		adar		Dyschromatosis symmetrica hereditaria (#127400)	Hyperpigmented/hypopigmented macules (dorsum of hands and feet, face)
ADCY5		Adcy5		adcy5					Establishment of melanosome localization increased occurrence, abnormal
ADGRA2		Adgra2		adgra2					Pigmentation process quality, abnormal; melanophore stripe broken
ADRB2		Adrb2		adrb2a					Integument melanosome decreased amount; integument melanosome decreased pigmentation
AEBP2		Aebp2		aebp2				Hypopigmentation, hypopigmented feet and tail
		Afg3l1						Hair graying in double KO with Afg3l2; Afg3l1 was whole animal null, while Afg3l2 was Tamoxifen-induced Cre-mediated targeting to oligodendrocyte lineage in adult mice (conditional); graying started ventrally, then spread dorsally
AFG3L2		Afg3l2		afg3l2				Hair graying in double KO with Afg3l1; Afg3l1 was whole animal null, while Afg3l2 was Tamoxifen-induced Cre-mediated targeting to oligodendrocyte lineage in adult mice (conditional); graying started ventrally, then spread dorsally
AHCY		Ahcy		ahcy					Melanocyte quality, abnormal
ALCAM		Alcam		alcama					Integument melanocyte decreased contractility, abnormal, integument melanocyte spatial pattern, abnormal
ALDH2		Aldh2		aldh2.1	aldh2.2			Hyperpigmentation on footpads
ALDOA		Aldoa		aldoaa					Pigment cell decreased amount; whole organism pigmented, abnormal
ALG13		Alg13		alg13					Pigmentation decreased occurrence, abnormal
ALX3		Alx3		alx3						Rodent phenotype (Rhabdomys pumilio); developmentally regulates striping pattern
AMBRA1		Ambra1		ambra1a	ambra1b				ambra1a = pigmentation delayed / ambra1b = pigmentation delayed
ANXA2		Anxa2		anxa2a						Cell-based phenotype; Anxa2 KD reduces melanin content; BLOC-1-KIF13A-Annexin A2 molecular network regulates recycling endosome tubules, PMID: 26725201
AP1G1		Ap1g1		ap1g1						KD of AP1G1 (gamma subunit of AP-1) results in decreased melanin production and melanosome biogenesis due to a malformation of endosomal carriers associated with a defect in TYRP1 trafficking to melanosomes. AP-1 complex interacts directly with KIF13A. PMID: 19841138
AP1M1		Ap1m1		ap1m1						D of AP1M1 (mu subunit of AP-1) results in decreased melanin production and melanosome biogenesis due to a malformation of endosomal carriers associated with a defect in TYRP1 trafficking to melanosomes. AP-1 complex interacts directly with KIF13A. PMID: 19841138
AP1S1		Ap1s1		ap1s1					Pigmentation decreased occurrence, abnormal
AP3B1		Ap3b1		ap3b1a	ap3b1b	HPS2, Hermansky-Pudlak syndrome 2 (#608233)	Oculocutaneous albinism and fair hair	Diluted coat color, white spotting, hypopigmentation, abnormal skin pigmentation; decreased eye pigmentation, pearl (pe)
AP3D1		Ap3d1		ap3d1		HPS10, Hermansky-Pudlak syndrome 10 (#617050)	Oculocutaneous albinism, hypopigmented hair	Diluted coat color, abnormal retinal pigment epithelium, decreased eye pigmentation, mocha
AP3S2		Ap3s2		ap3s2					Melanocyte decreased pigmentation
APC		Apc		apc				Skin morphology alterations; Abnormal skin pigmentation, increased ear and forehead pigmentation, dark median line, delayed hair growth, abnormal keratinocyte differentiation, Apctm2Rak/Apctm2Rak; Tg(KRT14-cre)8Brn/0 (conditional)
ARCN1		Arcn1		arcn1a	arcn1b			Diluted coat color, pale coat neuro
ARL6		Arl6		arl6					Melanosome transport decreased rate, abnormal
ARL6IP1		Arl6ip1		arl6ip1					Iridophore decreased amount; melanocyte decreased amount
ASIP		a (9)		asip1				Diluted coat color, yellow coat color, decreased ear and tail pigmentation, agouti (a)	Melanocyte increased amount; melanophore stripe dorsalized, abnormal
				asip2b					Trunk melanosome increased area, abnormal
ATE1		Ate1		ate1				Patches of red hair among black hair, 10% of surviving mice, Ate1tm1Avar/Ate1tm2.1Avar; Tg(CAG-cre/Esr1*)5Amc/0 (conditional)
ATG7		Atg7		atg7				Hypopigmentation of the epidermis; Atg7 f/f; Tyr::Cre (conditional); Atg7 KO in melanocytes suppresses autophagy, melanin content of hair decreased by 10–15%, PMID: 25290687
ATM		Atm		atm		Ataxia-telangiectasia (#208900)	Hyperpigmentation, cafe au lait spots
ATOH7		Atoh7		atoh7					Pigment cell quality, abnormal
ATOX1		Atox1		atox1				Hypopigmentation, copper metallochaperone
ATP1A1		Atp1a1		atp1a1a.1					Melanocyte morphology, abnormal
ATP6AP1		Atp6ap1		atp6ap1b					Melanocyte decreased pigmentation; melanocyte increased size, abnormal: melanosome organization process quality, abnormal: retinal pigmented epithelium melanosome decreased size, abnormal; retinal pigmented epithelium melanosome broken
ATP6AP2		Atp6ap2		atp6ap2					Whole organism unpigmented; pigment cell quality, abnormal; retinal pigmented epithelium disorganized
ATP6V0B		Atp6v0b		atp6v0b					Integument colorless; whole organism colorless; eye discolored
ATP6V0C		Atp6v0c		atp6v0ca					Melanocyte decreased pigmentation; eye pigmentation disrupted
ATP6V0D1		Atp6v0d1		atp6v0d1					Eye pigment granule organization process quality, abnormal; trunk decreased pigmentation
ATP6V1E1	ATP6V1E2	Atp6v1e1	Atp6v1e2	atp6v1e1b					Melanocyte decreased pigmentation; retinal pigmented epithelium quality, abnormal; trunk decreased pigmentation
ATP6V1F		Atp6v1f		atp6v1f					Eye decreased pigmentation; trunk unpigmented
ATP6V1H		Atp6v1h		atp6v1h					Eye color, abnormal; melanocyte malformed; pigmentation decreased occurrence, abnormal
ATP7A		Atp7a		atp7a		Menkes disease (#309400)	Skin hypopigmentation and silvery hair, hair "steely" and "white"	Irregular coat pigmentation, absent coat pigmentation, copper transporter, mottled (Mo)	Pigmentation disrupted
ATP7B		Atp7b						Diluted coat color, hypopigmentation, toxic milk (tx)
ATR		Atr		atr				Hair graying, Atrtm1Bal/Atrtm2Bal; Ndor1Tg(UBC-cre/ERT2)1Ejb/0 (conditional)
ATRN		Atrn		atrn				Darkened coat color, suppresses Agouti pigment type switching, mahogany (mg)
BACE2		Bace2		bace2				Diluted, silver gray coat color, altered melanosome morphology in dermal melanocytes and RPE, functions to process PMEL, PMID:26912421, reduced melanin in hair shaft and uvea of eye, diluted (gray) coat color when treated with BACE inihibitor (inhibits BACE1 and BACE2), PMID: 23754390	Melanocyte migration disrupted; melanocyte dilated, abnormal
BARX2		Barx2		barx2				Hair follicle alterations; Abnormal coat/hair pigmentation, skin pigmentation, delay in the anterior to posterior clearing of pigments that occurs during the hair cycle
BBIP1		Bbip1		bbip1					Melanosome transport delayed, abnormal
BBS1		Bbs1		bbs1					Melanosome transport delayed, abnormal; retina layer formation process quality, abnormal
BBS2		Bbs2		bbs2					Melanosome transport delayed, abnormal; retinal pigmented epithelium ventral region absent
BBS4		Bbs4		bbs4					Melanosome transport delayed, abnormal
BBS7		Bbs7		bbs7					Melanosome transport delayed, abnormal
BCL2		Bcl2		bcl2b				Diluted coat color, gray coat color, hypopigmentation, irregular coat pigmentation
BCL2L11		Bcl2l11		bcl2l11				Abnormal coat/hair pigmentation, graying hair, in combination with BCL2; PMID: 11709185
BECN1		Becn1		becn1				Heterozygous Becn1 mouse mutant shows hypopigmentation of coat; PMID: 19057677
BLM		Blm		blm		Bloom syndrome (#210900)	Hypopigmented and hyperpigmented skin, sun-sensitivity, café au lait macules
BLOC1S3		Bloc1s3		bloc1s3		HPS8, Hermansky-Pudlak syndrome 8 (#614077)	Hypopigmentation of skin and hair; retinal hypopigmentation	Diluted coat color, decreased ear and tail pigmentation, abnormal melanosome morphology, abnormal eye pigmentation, reduced pigmentation (rp)
BLOC1S4		Bloc1s4		bloc1s4				Diluted coat color, abnormal melanosome morphology, decreased eye pigmentation, abnormal retinal pigmentation, cappuccino (cno)
BLOC1S5		Bloc1s5		bloc1s5		HPS11, Hermansky-Pudlak syndrome 11 (#619172) (#34685610)	Oculocutaneous albinism, hypopigmented hair	Diluted coat color, abnormal melanosome morphology, decreased eye pigmentation, abnormal retinal pigmentation, hypopigmentation, muted (mu)
BLOC1S6		Bloc1s6		bloc1s6		HPS9, Hermansky-Pudlak syndrome 9 (#614171)	Oculocutaneous albinism, hypopigmented hair	Diluted coat color, abnormal melanosome morphology, decreased eye pigmentation, ocular albinism
BMP5		Bmp5		bmp5					Melanocyte decreased amount
BMPR2		Bmpr2		bmpr2a	bmpr2b			PMID:22611050, Gray coat color; congenital graying in compound mutant of Bmpr2 (melanocyte-specific KO) with germline mutant with Acvr2a, Acvr2a+/-; Bmpr2flox/flox; K14-Cre (conditional); disorganized and clumping pigment present in hair medulla--smaller melanosomes that are still transferred to hair shaft
BNC2		Bnc2		bnc2					Melanocyte decreased amount; melanophore stripe malformed: trunk iridophore decreased amount; xanthophore decreased amount
BPTF		Bptf		bptf				Melanocyte-specific KO shows premature graying after first hair cycle; PMID: 26440048
BRAF		Braf		braf		LEOPARD syndrome 3 (#613707) Cardiofaciocutaneous syndrome type 1 (#115150)	LEOPARD syndrome = Pigmented lesions, lentigines, café au lait spots; Cardiofaciocutaneous syndrome = multiple lentigines	Melanocytic nevus-like hyperplasia and melanoma in transgenic BRAFV600E mice, Braftm1Cpri/Braftm1Cpri; Tg(Tyr-cre/ERT2)1Lru/0 (conditional); also hair graying in mice with double knockout for Braf and Raf1 (c-raf), B-raff/f; C-raff/f; Tyr::Cre/°; Dct::LacZ/° or B-raff/f; C-raff/f; Tyr::Cre/°; Z/EG/° (conditional), PMID: 23022482
BRCA1		Brca1						Hair graying after gamma-irradiation, skin pigmentation defects
BRCA2		Brca2		brca2		Fanconia anemia FANCD1 (#605724)	Hyperpigmentation, cafe au lait spots
BRD9		Brd9		brd9						KD inhibited melanin production in cultured melb-a mouse melanocytes, PMID: 36112085
BRIP1		Brip1		brip1		Fanconia anemia FNACJ (#609054)	Hyperpigmentation, cafe au lait spots
BTD		Btd		btd				Abnormal coat/hair pigmentation, by day 14, Btd null mice fed a biotin-depleted diet exhibit whitening of the fur around the eyes and subsequent graying of the fur over the entire body
C3orf38		4930453N24Rik		si:ch211-261p9.4				Abnormal coat/hair pigmentation, irregular coat pigmentation, ventral coat is lighter resembling at or Aw; white feet and tail tip observed; yellow hair absent from ears, dense incisors (din)
C8orf37		2610301B20Rik		si:dkey-242e21.4					Melanosome transport delayed, abnormal
CARS1		Cars		cars1					Whole organism decreased pigmentation
CAV1		Cav1		cav1					Melanocyte pigment granule movement quality, abnormal; retinal pigmented epithelium pigment granule movement quality, abnormal	KD causes an increase in melanin production and the number of pigmented melanosomes associated with suboptimal melanin transfer in a coculture system and in human pigmented reconstructed epidermis. CAV1 contributes to mechanosignaling in skin melanocytes. PMID: 32532976
				cax1					Pigmentation decreased occurrence, abnormal
CBL		Cbl		cbl				Darkened coat color, abnormal foot pigmentation, increased ear pigmentation, increased tail pigmentation
CBS		Cbs		cbsa	cbsb	Homocystinuria (#236200)	Hypopigmentation of skin and hair
CCDC28B		Ccdc28b		ccdc28b					Pigmentation process quality, abnormal
CCT2		Cct2		cct2					Melanosome transport disrupted, abnormal
CDC25A	CDC25B	Cdc25a	Cdc25b	cdc25b					Melanosome transport disrupted, abnormal
CDC42		Cdc42		cdc42				PMID: 28238662,white spotting, extensive ventral white spotting, small patches of dorsal white spotting, hypopigmented paws and tail; Cdc42 f/f; Tyr::CreB+ (conditional)	Melanosome transport disrupted; melanocyte decreased amount, abnormal
CDC73		Cdc73		cdc73					Melanocyte decreased amount, abnormal
CDH11		Cdh11		cdh11					Pigment cell development disrupted
CDH2		Cdh2		cdh2					Melanocyte differentiation delayed; eye pigmentation disrupted; axis melanoblast mislocalised medially
CDH3		Cdh3				Hypotrichosis with juvenile macular dystrophy (HJMD) (#601553) ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEMS) (#225280)	Retinal changes with prominent pigmentation in macular dystrophy, patients show unusually fair hair when compared to sibs
CDK5		Cdk5		cdk5				PMID: 29062096, diluted coat color, lighter brown coat color visible by 4 weeks (on C57Bl6 background), KD was from transgenic shRNA targeting Cdk5, polarized melanin distribution, at 8 weeks, sparse hair and skin plaques, thickened epidermis
CDK7		Cdk7		cdk7				Abnormal coat/hair pigmentation, hair graying at 8 months of age in mice exposed to a tamoxifen diet from weaning, Cdk7Gt(D032B11)1.1Wrst/ Cdk7Gt(D032B11)1.1Wrst; Ndor1Tg(UBC-cre/ERT2)1Ejb/0 (conditional)
CDKN2A		Cdkn2a		cdkn2a/b		Melanoma and neural system tumor syndrome (#155755)	Atypical and dysplastic nevi, susceptibility to cutaneous malignant melanoma
CDX1		Cdx1		cdx1a	cdx1b			White spotting, belly spot; PMID: 26952979, knockdown of function of all CDX family proteins by engrailed repressor spliced to CDX1; mice carrying additional KO of Cdx1 increases white spotting
CEP131		Cep131		cep131					Melanosome transport delay; PMID: 24550735
CEP290		Cep290		cep290					Melanosome transport decreased rate; whole organism decreased pigmentation
CGA		Cga		cga					Whole organism decreased pigmentation
CHD7		Chd7		chd7					Eye iridophore absent; whole organism melanocyte shape, abnormal; whole organism decreased pigmentation	Cell-based phenotype; regulates neural crest development/differentiation
CHEK1		Chek1		chek1				PMID: 23557358, deletion of Chek1 in melanocytes (Tyr::Cre transgene, conditional) showed complete absence of hair/skin pigmentation; melanoblasts specified at normal numbers, but lost to apoptosis starting at E12.5
CIB2		Cib2		cib2					Whole organism decreased pigmentation
CISD2		Cisd2		cisd2				Abnormal coat/hair pigmentation, early depigmentation and gray hair are present on top of the head and on the shoulders, at 48 weeks, mice exhibit premature fur depigmentation
CITED1		Cited1		cited1						Cell-based phenotype; expression in B16 melanocytes increases pigment, PMID: 11434569
CLCN7		Clcn7		clcn7		Hypopigmentation, organomegaly, and delayed myelination and development (#618541)(2 patients)	Cutaneous hypopigmentation, hypopigmented hair --note no osteopetrosis; PMID:31155284	PMID: 24820037, gray fur in knockout on agouti background, also retinal degeneration; PMID: 31155284, gain-of-function mutation, hypopigmented fur, abnormal lysosomal storage, abnormal brain myelination, no osteopetrosis
CLEC12B		Clec12b								Cell-based phenotype; KD in normal phototype III/IV human melanocytes increases pigmentation, and overexpression reduces pigmentation; similar results seen in 3D skin culture models, PMID: 34896119
COL17A1		Col17a1		col17a1a	col17a1b			Hair graying
COL6A2		Col6a2		col6a2					Whole organism decreased pigmentation
		Col6a4		col6a4a					Whole organism decreased pigmentation
COLEC11		Colec11		colec11					Pigment cell spatial pattern, abnormal
COP1		Cop1		cop1				Belly spot
COPA		Copa		copa					Melanocyte melanosome absent
COPB1		Copb1		copb1					Trunk melanosome absent
COPB2		Copb2		copb2					Melanocyte melanosome absent
CORIN		Corin		corin				Diluted coat color, mice exhibit a lighter coat color that is most pronounced in juveniles and persists through adulthood, many awl hairs are yellow instead of black
CORO1A		Coro1a		coro1a					Pigment cell decreased amount
CPLX4		Cplx4		cplx4a					Melanocyte cellular pigment accumulation occurrence, abnormal; melanocyte cellular response to light intensity decreased occurrence, abnormal; melanocyte melanosome aggregated, abnormal
CPSF1		Cpsf1		cpsf1					Trunk iridophore decreased amount
CRB2		Crb2		crb2a					Melanocyte differentiation delayed; retinal pigmented epithelium poorly differentiated
CREB3L2		Creb3l2		creb3l2					Melanocyte melanosome immature; melanocyte melanosome circular, abnormal
CRH		Crh		crhb					Melanocyte melanosome aggregated, abnormal; melanosome localization disrupted
CRTC3		Crtc3		crtc3				Ctrc3 null mice show hypopigmented hair and skin; Mitf expression and melanogenic enzyme levels reduced, PMID: 34815795
CSF1R		Csf1r		csf1ra					Head xanthophore irregular spatial pattern: iridophore pigmentation process quality, abnormal: melanocyte decreased amount; melanophore stripe melanocyte decreased amount
CSNK1A1		Csnk1a1		csnk1a1				Hyperpigmentation of skin; keratinocyte-specific KO in Csnk1a1fl/fl; K14-Cre-ERT2 mice (conditional): p53-dependent, PMID: 28878021
CTBP2		Ctbp2		ctbp2a					Melanocyte increased amount, abnormal
CTC1		Ctc1		ctc1		Cerebroretinal microangiopathy with calcifications and cysts-1 (CRMCC1) (#612199)	Graying hair; reticulated skin hyperpigmentation
CTLA4		Ctla4						Immune-system related, variable depigmentation, 1 in 6 mice develop autoimmune vitiligo
CTNNB1		Ctnnb1		ctnnb1				Abnormal melanoblast proliferation, white coat for loss-of-function in melanocytes, b-cateninfloxed/floxed; Tyr::Cre (conditional), gray coat for gain-of-function in melanocytes, activated b-catenin transgenic, PMID: 21862558, also, abnormal melanogenesis, Ctnnb1tm1Yy/Ctnnb1tm1Yy; Tg(Prrx1-cre)1Cjt/0 (conditional)
CTNS		Ctns		ctns		Cystinosis (#219800)	Hypopigmentation of skin and hair; abnormal retinal pigmentation
CTR9		Ctr9		ctr9					Melanocyte absent; pigmentation arrested
CTSD		Ctsd		ctsd					Integument increased pigmentation; retina lacks all parts of type retinal pigmented epithelium microvillus
CXCL12		Cxcl12		cxcl12a					Melanophore stripe melanocyte decreased amount, abnormal
CYP11A1		Cyp11a1		cyp11a1	cyp11a2	Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete (#613743)	Hyperpigmentation
DCT		Dct (4)		dct		OCA8, Oculocutaneous albinism type 8 (#619165) (#33959807)	Mild oculocutaneous albinism, hair hypopigmentation	Diluted coat color, abnormal iris color, slaty (slt)
DCTN1		Dctn1		dctn1b						Cell-based phenotype; regulates melanosome transport; KD causes melanosome dispersal to cell periphery, is a phenocopy of melanoregulin kd in ashen cells; phenocopy seen for KD of RILP, DCTN1 (aka p150Glued), and overexpression of DCTN2; PMID: 22275436
DCTN2		Dctn2		dctn2						Cell-based phenotype; regulates melanosome transport; overexpression causes melanosome dispersal to cell periphery, is a phenocopy of melanoregulin kd in ashen cells; phenocopy seen for KD of RILP, DCTN1 (aka p150Glued), and overexpression of DCTN2; PMID: 22275436
DDB2		Ddb2		ddb2		Xeroderma pigmentosum XPE (#278740)	Pigmented or depigmented macules and patches
DDX3X		Ddx3x		ddx3a	ddx3b	Syndromic X-linked mental retardation of the Snijders Blok type (MRXSSB) (#300958)	Pigmentary skin anomalies
DENND5A		Dennd5a		dennd5a					Morpholino knockdown of dennd5a reduced pigmentation; a splice morpholino mimicing a human DENND5A mutation associated with familial melanoma showed reduced pigmentation and increased UV sensitivity, PMID: 34906508	Cell-based phenotype; si knockdown decreased melanin levels and reduced dendricity, PMID: 34906508
				dharma					Melanocyte displaced to neural tube ventral surface, abnormal
DHRSX		Dhrsx		dhrsx					Melanocyte irregular spatial pattern; xanthophore quality, abnormal
DICER1		Dicer1		dicer1					Reduced pigmentation, reduced melanocyte number in body; PMID: 30840854
DIO2		Dio2		dio2					Developmental pigmentation delayed
DISC1		Disc1		disc1					Pigmentation occurrence, abnormal
DKC1		Dkc1		dkc1		X-linked dyskeratosis congenita (DKCX) (#305000)	Reticulated skin hyperpigmentation
DLAT		Dlat		dlat					Pigmentation increased amount
DMXL2		Dmxl2		dmxl2					Melanocyte decreased amount; xanthoblast neural crest cell aggregated, abnormal
DNM2		Dnm2		dnm2b					Pigmentation disrupted
DOCK7		Dock7		dock7				Diluted coat color; belly spot; abnormal skin pigmentation; abnormal digit pigmentation; non-pigmented tail tip, misty (m), moonlight (mnlt)
DRD2		Drd2		drd2a				Darkened coat, hyperpigmentation, increased alpha-MSH levels
DSG4		Dsg4						Skin morphology alterations; Abnormal skin pigmentation, at 4-8 weeks of age, the skin is slightly darker in color, thick dermal layer, alopecia, lanceolate hair
DSTYK		Dstyk		dstyk		Spastic paraplegia 23 (#270750)	Premature hair graying, café au lait spots, hypopigmentation of skin regions
DTNBP1		Dtnbp1		dtnbp1a	dtnbp1b	HPS7, Hermansky-Pudlak syndrome 7 (#614076)	Oculocutaneous albinism and fair hair	Diluted coat color, decreased eye pigmentation, fewer melanosomes in RPE, sandy (sdy)	dtnbp1a = Melanin decreased amount, abnormal
DYNC1H1		Dync1h1		dync1h1					Melanosome localization process quality, abnormal; melanocyte distended, abnormal; pigmentation process quality, abnormal
DYNLT3		Dynlt3		dynlt3						Cell-based phenotype; Dynlt3 kd reduces melanocyte movement, acidity/maturation, and transfer; regulated by b-catenin, PMID: 33772156
DZANK1		Dzank1		dzank1					Melanosome transport delayed
EBNA1BP2		Ebna1bp2		ebna1bp2					Pigment cell quality, abnormal; pigmentation delayed; whole organism decreased pigmentation
ECE1		Ece1		ece1				Abnormal epidermal melanocyte morphology (dorsal skin melanocytes missing), abnormal choroid melanocyte morphology (melanocytes missing), abnormal harderian gland pigmentation (missing melanocytes)
ECE2		Ece2		ece2b					Iridophore decreased amount; melanocyte decreased pigmentation
EDA		Eda		eda				Abnormal hair follicle melanocyte morphology, irregular coat/hair pigmentation, abnormal skin pigmentation, transverse fur striping (missing agouti band leads to darker hair), tabby (Ta)
EDAR		Edar		edar				Hair follicle alterations; Darkened coat color, reduced hairs with yellow banding in agouti mice, absence of the guard and zig-zag hairs, and presence abnormalities in intermediate hair types (awl and auchene), PMID: 17148670, downless (dl)
EDARADD		Edaradd		edaradd				Abnormal coat / hair pigmentation, abnormal skin pigmentation, copper-related, Agouti is modified-- the back is blacker, the flanks are yellower than normal, crinkled (cr)
EDN1		Edn1		edn1				PMID: 27134165, transgenic mice with Edn1 expressed in keratinocytes, K14-rtTA; TetO-Edn1- lacZ, increased melanocyte stem cell proliferation and differentiation, also, when combined with Mc1R targeted KO in melanocytes (Tyr-CreER;Mc1Rfl/fl; K14-rtTA; tetO-Edn1-LacZ), showed rescue of wound healing melanocyte phenotype
EDN3		Edn3 (1)		edn3a	edn3b	Waardenburg syndrome 4B (#613265)	Hypopigmented skin regions on face trunk and limbs; hypopigmented forelock, eyebrows, and eyelashes; premature graying; hypopigmented irides	Darkened coat color, abnormal ear pigmentation, abnormal skin pigmentation, abnormal melanosome morphology, lethal spotting (ls)	edn3b = melanocyte shape, abnormal; melanocyte decreased pigmentation
EDNRB		Ednrb (2)		ednrba		Waardenburg syndrome 4A (#277580) ABCD syndrome (#600501)	WS4A, hypopigmentation, hypopigmented skin patches, forelock, eyebrows, and eyelashes; Heterochromia irides; premature graying; ABCD syndrome; black lock, retinal depigmentation	Belly spot, head spot, white spotting, variable body spotting, abnormal choroid pigmentation, piebald	Iridophore absent; melanocyte absent; xanthophore spatial pattern, abnormal; trunk melanophore stripe malformed; trunk melanocyte decreased amount
EED		Eed		eed				Hair follicle alterations; Diluted coat color, hair follicle alterations, PMID: 26994968
EGFR		Egfr		egfra				Skin morphology alterations; Increased foot pad pigmentation, thick epidermis
EIF3B		Eif3b		eif3ba					Cellular pigmentation decreased occurrence
EIF3C		Eif3c		eif3c				White spotting, belly spot, extra-toes spotting
EIF3E		Eif3e		eif3ea					Melanocyte mislocalised; melanocyte decreased pigmentation
EIF3G		Eif3g		eif3g					Pigment cell quality, abnormal; pigmentation delayed; whole organism decreased pigmentation
EIF3H		Eif3h		eif3hb					Pigmentation decreased occurrence
EIF3I		Eif3i		eif3i					Whole organism decreased pigmentation
EN1		En1		en1a	en1b			Abnormal digit hyperpigmentation, hyperpigmented nail structures, abnormal hair follicle development
ENPP1		Enpp1		enpp1		Cole disease (#615522)	Hypopigmentation, primarily on extremites; reduction in melanin content in keratinocytes
EPG5		Epg5		epg5		Vici syndrome (#242840)	Hypopigmentation of skin and hair; cutaneous albinism, ocular albinism, retinal hypopigmentation
ERBB3		Erbb3		erbb3b					Melanophore stripe irregular spatial pattern; melanocyte spatial pattern, abnormal; xanthophore decreased amount
ERC1		Erc1		erc1a	erc1b					ERC1 (ELKS) KD resulted in reduced pigmentation and melanosome biogenesis. ERC1 (ELKS) is an effector of RAB6A. PMID: 28607494
ERCC2		Ercc2		ercc2		Xeroderma pigmentosum XPD (#278730)	Pigmented or depigmented macules and patches	White spotting, hair graying with age
ERCC3		Ercc3		ercc3		Xeroderma pigmentosum XPB (#610651)	Pigmented or depigmented macules and patches, freckling
ERCC4		Ercc4		ercc4		Xeroderma pigmentosum XPF (#278760)	Pigmented or depigmented macules and patches
ERCC5		Ercc5		ercc5		Xeroderma pigmentosum XPG (#278780)	Pigmented or depigmented macules and patches
ERCC6		Ercc6		ercc6		UV-sensitive syndrome-1 (UVSS1) (#600630)	Pigmented or depigmented macules and patches
ESCO2		Esco2		esco2		Roberts syndrome, SC phocomelia syndrome (#268300)	Roberts syndrome, hyperpigmentation and hypopigmentation, café au lait spots, silvery blond hair; SC phocomelia syndrome, silvery blond hair		Integument decreased pigmentation
ETS1		Ets1		ets1				Head blaze, white spotting, belly spot, variable spotting
EXOC5		Exoc5		exoc5					Melanosome transport delayed
TLCD3B		Tlcd3b		tlcd3ba	tlcd3bb				tlcd3ba = pigment cell decreased amount
FANCA		Fanca		fanca		Fanconia anemia FANCA (#227650)	Hyperpigmentation; cafe au lait spots
FANCC		Fancc		fancc		Fanconia anemia FANCC (#227645)	Hyperpigmentation; cafe au lait spots
FANCD2		Fancd2		fancd2		Fanconia anemia FANCD2 (#227646)	Hyperpigmentation; cafe au lait spots
FANCE		Fance		fance		Fanconia anemia FANCE (#600901)	Hyperpigmentation; cafe au lait spots
FANCI		Fanci		fanci		Fanconia anemia FANCI (#609053)	Hyperpigmentation; cafe au lait spots
				fbn2b					Melanocyte absent
FBXO5		Fbxo5		fbxo5					Pigment cell quality, abnormal
FBXW4		Fbxw4		fbxw4					Pigment cell irregular spatial pattern
FGFR3		Fgfr3		fgfr3		Crouzon syndrome with acanthosis nigricans (#612247)	Acanthosis nigricans, hyperpigmentation, hypopigmentation of surgical scars, melanocytic nevi
FHL1		Fhl1	Fhl4	fhl1a					Pigmentation decreased process quality, abnormal
FIG4		Fig4 (1)		fig4a				Hypopigmentation, diluted coat color, pale tremor (plt)
FLNA		Flna		flna		Terminal osseous dysplasia (#300244)	Pigmentary skin anomalies on face and scalp
FMN1		Fmn1		fmn1				No obvious pigmentation phenotype in KO mice. PMID: 19383632		Fmn1 KD/KO in melanocytes induce melanosome clustering around the nucleus. FMN1 appears to be required for normal melanosome dispersion. PMID: 32661310
FMR1		Fmr1		fmr1		Prader-Wili-like form of Fragile X (FXS) (#300624)	Hyperpigmentation, periorbital, axillary, or genital
FOXD3		Foxd3		foxd3					Melanocyte decreased amount; iridophore decreased amount; melanophore irregular spatial pattern; xanthophore decreased amount
FOXM1		Foxm1		foxm1					Pigmentation delayed
FOXN1		Foxn1		foxn1				Skin morphology alterations; Reduced hair shaft melanin granule number; hairless and abnormal skin pigmentation; color oscillation across different regions becomes out of phase, ultimately resulting in evenly spaced bands of pigment that appear to travel across the body, nude (nu)
FOXQ1		Foxq1		foxq1a	foxq1b			Reduced pigmentation in vivo in response to forskolin; PMID: 29463842		Cell-based phenotype; KD reduces pigmentation in cell cuture
FREM2		Frem2		frem2a	frem2b			Variable body spotting	frem2a = melanocyte quality, abnormal
FSCN1		Fscn1		fscn1a	fscn1b			PMID: 23633513, White belly spotting in KO mice
FTO		Fto		fto					Melanocyte mislocalised
FZD4		Fzd4		fzd4				Diluted coat color, light black (C57Bl6J background) or silver (agouti background)
GART		Gart		gart					Pigmentation disrupted; melanocyte pigment granule decreased amount; xanthophore pigment granule decreased amount; retinal pigmented epithelium decreased pigmentation; iridophore pigment granule decreased amount
GAS7		Gas7		gas7a					Pigmentation process quality, abnormal
GATA3		Gata3		gata3				Skin morphology alterations; Abnormal hair follicle melanin granule morphology, abnormal epidermal layer morphology, Gata3tm3Gsv/ Gata3tm3Gsv; Tg(KRT14-cre)8Brn/0 (conditional), also Gata3jal/Gata3jal mice show abnormal epidermal layer morphology, abnormal hair shaft melanin granule distribution
GBF1		Gbf1		gbf1					Head has fewer parts of type melanocyte
GDF6		Gdf6		gdf6a					Pigmentation process quality, abnormal; whole organism colorless
GDF15		Gdf15								Cell-based phenotype; GDF15 overexpression by fibroblasts induces melanin formation in human primary melanocytes, and KD reduces melanogenesis; PMID: 32416083
GDPD3		Gdpd3		gdpd3a					Pigment cell decreased amount
GFPT1		Gfpt1		gfpt1					Melanocyte decreased amount; melanocyte differentiation disrupted
GGT1		Ggt1		ggt1a	ggt1b			Diluted coat color, appear gray, dwarf grey
GJA4		Gja4		cx39.4					Iridophore pigmentation process quality, abnormal; melanophore stripe absent; whole organism dappled
GJA5		Gja5		gja5b					Iridophore pigmentation process quality, abnormal; melanocyte absent; melanophore stripe broken; pigmentation disrupted; xanthophore absent
GLI3		Gli3		gli3				Belly spot, hypopigmentation, extra toes
GMPPB		Gmppb		gmppb					Whole organism decreased pigmentation
GMPS		Gmps		gmps					Iridophore pigment granule decreased amount: melanocyte pigment granule decreased amount; xanthophore pigment granule decreased amount
GNA11		Gna11		gna11a	gna11b			Darkened coat color, increased ear pigmentation, increased foot pad and tail pigmentation, hyperpigmentation
GNAI3		Gnai3		gnai3		Ocular albinism (#139370)	PMID:27607449, Ocular albinism; pigmentation abnormalities; hypopigmentation: affected males have subtly lighter hair and skin than their unaffected siblings
GNAQ		Gnaq		gnaq				Hyperpigmentation, darkened coat color, increased ear pigmentation, abnormal dermal pigmentation, Increased foot pad and tail pigmentation
GNAS		Gnas		gnas		McCune-Albright syndrome (#174800)	Large cafe au lait spots
GNAT2		Gnat2		gnat2					Melanocyte morphology, abnormal
GPATCH3		Gpatch3		gpatch3					Iridophore decreased amount; xanthophore decreased amount
GPC3		Gpc3		gpc3				White spotting, belly spot
GPER1		Gper1		gper1						Cell-based phenotype; hyperpigmentation, mediates estrogen steroid effects on human pigment synthesis; shown in vitro and in organotypic skin tissue; also agonists shown to have an effect in mouse ear, PMID: 2711534
GPNMB		Gpnmb		gpnmb		Amyloidosis, primary localized cutaneous, 3 (PLCA3) (#617920)	Hyperpigmented and hypopigmented macules			Cell-based melanocyte phenotype; si-mediated KD causes reduced melanosomes
GNPTAB		Gnptab		gnptab				Mouse transgenic model expressing a GNPTAB missense mutation associated with mucolipidosis type II and mucolipidosis type III alpha/beta showed reduced hair follicle pigmentation, PMID: 34116066		In hair follicle organ cultures, GNPTAB kd reduced melanin production, melanosome sorting, and tyrosinase activity; KD in primary melanocytes also reduced melanin production and tyrosinase activity, and altered TYR protein sorting, PMID: 34116066
GPR143		Gpr143		gpr143		Ocular albinism, type I (OA1), Nettleship-Falls type (#300500)	Mild skin hypopigmentation; ocular albinism	Abnormal melanosome morphology, abnormal iris pigment epithelium, abnormal retinal pigment epithelium	Retinal pigmented epithelium melanosome decreased amount, retinal pigmented epithelium decreased pigmentation
GPR161		Gpr161		gpr161	gpr161b			Belly spot, PMID: 28135291; MOLF background increases belly spot incidence, vacuolated lens (vl)
GPR89A	GPR89B	Gpr89						Skin morphology alterations; Hypopigmentation, visible at 4 days, altered epidermal differentiation, Gpr89tm1.1Ymae/Gpr89tm1.1Ymae; Tg(KRT5-cre)1Tak/0 (conditional)
GRK3		Grk3		grk3					Pigmentation disrupted
GRM1		Grm1		grm1a	grm1b			Hyperpigmentation, Tg(Dct-Grm1)ESzc/0 (transgenic)
GTF2IRD1		Gtf2ird1		gtf2ird1				Belly spot
GTPBP3		Gtpbp3		gtpbp3					Whole organism decreased pigmentation
H2AZ2		H2az2		h2az2a	h2az2b				KD caused reduced melanocyte precursors, adult melanocyte number, and impaired adult melanocyte regeneration; PMID: 32098766	Cell-based phenotype; KD reduced melanocyte precursors from mouse embryonic stem cells
H3-3A		H3F3a		h3f3a					Melanocyte decreased amount; xanthoblast decreased amount
HDAC1		Hdac1		hdac1				Skin morphology alterations; Increased foot pad and tail pigmentation, epidermal hyperplasia Hdac1tm1.1Eno/Hdac1tm1.1Eno; Tg(KRT14-cre)1Ipc/0	Pigment cell irregular spatial pattern
HDAC2		Hdac2						PMID: 23792463, Hyperpigmentation, in combination with Hdac1 ko, Hdac1tm1.1Eno/Hdac1tm1.1Eno; Hdac2tm1.1Eno/Hdac2+, Tg(KRT14-cre)1Ipc/0 (conditional), greater hyperpigmentation in footpads than Hdac1 ko alone
HELLS		Hells		hells				Abnormal coat/hair pigmentation, graying seen by P15 on agouti backgound
HES1		Hes1		her6				PMID: 16651378, In mouse skin, suppresses graying/melanocyte apoptosis induced by DAPT; Dct-Hes1 transgenic
HEXIM1		Hexim1		hexim1					Melanocyte amount ameliorated; suppresses melanoma
HGF		Hgf						Skin hyperpigmentation, 3 transgenic lines: HGFTg1, HGFTg43 and HGFTg75, hyperpigmentation of line 1 is light, of line 43 moderate and of line 75 dark, most analyses on line 43, PMID: 10842060
HIPK2		Hipk2		hipk2					Melanocyte differentiation disrupted; eye decreased pigmentation
HIRIP3		Hirip3		hirip3					Whole organism pigmentation, abnormal; pigment cell decreased amount
HOXA13		Hoxa13		hoxa13a	hoxa13b				hoxa13a = melanocyte disorganized, abnormal / hoxa13b = melanocyte disorganized, abnormal
HOXB7		Hoxb7		hoxb7a					Whole organism decreased pigmentation, abnormal
HPS1		Hps1		hps1		HPS1, Hermansky-Pudlak syndrome 1 (#203300)	Oculocutaneous albinism, hypopigmented hair, freckling and nevi	Decreased ear and tail pigmentation, decreased eye pigmentation, abnormal melanosome morphology, pale ear (ep)
HPS3		Hps3		hps3		HPS3, Hermansky-Pudlak syndrome 3 (#614072)	Oculocutaneous albinism, hypopigmented hair; hypopigmentation of retina and choroid	Diluted coat color, decreased eye pigmentation, abnormal melanosome morphology, cocoa (coa)
HPS4		Hps4		hps4		HPS4, Hermansky-Pudlak syndrome 4 (#614073)	Hypopigmentation of skin and hair, hypopigmentation of retina	Diluted coat color, decreased eye pigmentation, abnormal melanosome morphology, light-ear (le)
HPS5		Hps5		hps5		HPS5, Hermansky-Pudlak syndrome 5 (#614074)	Oculocutaneous albinism, hypopigmented hair	Diluted coat color, abnormal eye pigmentation, abnormal ear pigmentation, ruby-eye2 (ru2)	Iridophore absent; head melanocyte decreased amount; retinal pigmented epithelium decreased pigmentation; retinal pigmented epithelium melanosome decreased amount; retinal pigmented epithelium melanosome immature
HPS6		Hps6		hps6		HPS6, Hermansky-Pudlak syndrome 6 (#614075)	Oculocutaneous albinism, hypopigmented hair	Diluted coat color, abnormal eye pigmentation, abnormal ear pigmentation, ruby-eye (ru)
HRAS		Hras		hrasa	hrasb	Costello syndrome (#218040)	Hyperpigmentation, palmar nevi, congenital melanocytic nevi and blue nevi; also mutated melanocytic nevi
HSD3B1		Hsd3b1		hsd3b1					Whole organism increased pigmentation
HSP90B1		Hsp90b1		hsp90b1				PMID: 24024552, Hypopigmented hair in tamoxifen-induced, melanocyte-specific KO, Tyr-cre/ERT2-Hsp90b1flox/flox, (conditional)
HTR2A		Htr2a		htr2aa	htr2ab				htr2aa knockout shows reduced response to 5-HT, PMID: 35682806	Cell-based phenotype; pigmentation induced by 5-HT/seratonin is mediated by HTR2A, PMID: 35682806
HTRA1		Htra1		htra1a					Pigmentation decreased occurrence
HTT		Htt		htt					Pigment accumulation delayed; trunk melanocyte disorganized
IDH2		Idh2		idh2				KO mice show darkly pigmented dorsal skin and increased melanin content after 10-12 weeks; stems from oxidative damage and upregulated alpha-MSH expression in keratinocytes; PMID: 29660504
IDS		Ids		ids		Mucopolysaccharidosis type II / Hunter syndrome (#309900)	Hyperpigmentation, mongolian spots, retinal pigmentation abnormalities
IDUA		Idua		idua		Hurler syndrome (#607014)	Hyperpigmentation, mongolian spots
IER3IP1		Ier3ip1		ier3ip1					Pigmentation delayed; whole organism decreased pigmentation
IFT27		Ift27		ift27					Melanosome transport delayed
IFT122		Ift122		ift122					Melanocyte mislocalised
IGFBP7		Igfbp7		igfbp7					Melanocyte absent, abnormal
IGSF11		Igsf11		igsf11					Melanocyte migration disrupted; melanophore stripe patchy
IKBKB		Ikbkb						Skin morphology alterations; Thickened and hyperpigmented skin, transgenic, Tg(KRT5-IKBKB)1Armz
IKBKG		Ikbkg		ikbkg		Incontinentia pigmenti (#308300)	Hypopigmented skin lesions, hyperpigmented macules in streaky configuration	Skin morphology alterations; Abnormal dermal and epidermal pigmentation, areas of reduced or absent pigmentation, lack of hair growth, increased keratinocyte apoptosis, abnormal kertinocyte morphology
IL17A		Il17a								Cell-based phenotype; IL-17 and TNF synergistically inhibited pigmentation-related signaling and melanin production; neutralization of TNF and IL-17 with mAbs resulted in a rapid recovery of pigment gene expression in psoriasis lesions, PMID: 29613836, IL-17 treatment of zebrafish skin inhibits melanogenesis, PMID: 23732752
ILK		Ilk		ilk				Hair follicle alterations; Abnormal skin pigmentation, impaired hair follicle morphogenesis, Ilktm1Star/Ilktm1Star; Tg(KRT14-cre)1Amc/0 (conditional)	Pigment cell quality, abnormal
IMPDH1		Impdh1		impdh1a					Iridophore absent; xanthophore absent; head melanocyte increased amount, abnormal; pigmentation process quality, abnormal
INO80E		Ino80e		ino80e					Whole organism pigmented, abnormal
INPP5B		Inpp5b		inpp5b					Melanosome localization disrupted
INPP5E		Inpp5e		inpp5e					Melanosome transport increased duration, abnormal; whole organism decreased pigmentation
IPPK		Ippk		ippk					Melanosome transport affected; PMID: 18056639
IRF4		Irf4		irf4a	irf4b	Skin/hair/eye pigmentation, variation in, SHEP8 (#611724)	Functionally regulates pigment variation regulation, cooperates with MITF to regulate expression of TYR
IRX1		Irx1		irx1a					Melanocyte melanosome increased distribution, abnormal
IRX2		Irx2		irx2a					Whole organism increased pigmentation
ITGA3		Itga3		itga3b					Melanocyte irregular spatial pattern
ITGB1		Itgb1		itgb1a	itgb1b			Skin morphology alterations; Abnormal skin pigmentation, abnormal dermal pigmentation, hypopigmentation, altered skin morphology described by publications, Itgb1^tm1Ref/Itgb1^tm1Ref; Tg(KRT5-cre)5132Jlj/0 (conditional)
JAM3		Jam3		jam3b					Melanocyte decreased amount; melanophore stripe disorganized
KBTBD8		Kbtbd8		kbtbd8						Cell-based phenotype; regulates human neural crest specification, knockdown inhibited differentiation of hESC-derived neural crest cells into progeny, including melanocytes
KCNJ13		Kcnj13		kcnj13					Melanophore stripe irregular spatial pattern; melanophore stripe decreased amount; xanthophore spatial pattern, abnormal
KCTD15		Kctd15		kctd15a	kctd15b				kctd15a and kctd15b double mutant = whole organism increased pigmentation, melanocyte increased amount, abnormal
KIF3A		Kif3a		kif3a					Melanosome localization disrupted
KIF5A		Kif5a		kif5aa					Melanocyte black, abnormal; melanocyte melanosome distended, abnormal; whole organism increased pigmentation
KIF13A		Kif13a		kif13a						Cell-based phenotype; si KD blocks melanosome maturation and reduces melanin content; PMID: 26725201 KD results in decreased melanin production and melanosome biogenesis due to a malformation of endosomal transporters associated with a defect in TYRP1 trafficking to melanosomes. KIF13A interacts directly with AP-1. PMID: 19841138
KIT		Kit (4)		kita	kitb	Piebaldism (#172800)	White forelock; hypopigmentation of medial forehead, eyebrows, chin, ventral chest, abdomen, limbs; hyperpigmented borders of unpigmented areas; heterochromia irides	Absent coat pigmentation, diluted coat color, abnormal skin pigmentation, abnormal eye pigmentation, dominant spotting (W)	kita = melanoblast decreased amount; melanocyte decreased size; melanoblast transient increased amount, abnormal; melanocyte spatial pattern, abnormal; melanocyte apoptotic (many other melanocyte phenotypes)
KITLG		Kitl		kitlga		Familial progressive hyperpigmentation with or without hypopigmentation (#145250)	Hyperpigmented and hypopigmented skin patches	Absent coat pigmentation, abnormal skin pigmentation, decreased tail pigmentation, abnormal eye pigmentation, steel (Sl)	Melanocyte decreased amount; melanocyte apoptotic; whole organism lacks all parts of type melanocyte
KRAS		Kras		kras				Hyperpigmentation; abnormal melanocyte morphology, melanocyte proliferation, increased melanoma incidence in ko mice; Krastm4Tyj/Kras+; Tg(Tyr-cre/ERT2)13Bos/0 (conditional)
KRT1		Krt1						Skin morphology alterations; Hyperpigmentation, abnormal skin pigmentation, hyperkeratosis
KRT2		Krt2						Skin morphology alterations; Increased pigmentation of ear, foot pad and tail, hyperkeratosis
KRT4		Krt4						Skin morphology alterations; Diluted coat color, heterozygotes have a bright coat color apparent at 4 weeks of age, but less obvious at later time points, abnormal skin pigmentation, abnormal epithelial proliferation
KRT5		Krt5		krt5		Dowling-Degos disease 1 (#179850) Epidermolysis bullosa simplex (#131800)	Dowling-Degos disease 1, Progressive reticulate hyperpigmentation; Epidermolysis bullosa simplex, discrete 2 to 5-mm hyper- and hypopigmented macules, mottled pigmentation of the trunk and proximal extremities
KRT9		Krt9						Skin morphology alterations; Hyperpigmentation on footpads, abnormal epidermis stratum spinosum morphology
KRT14		Krt14				Naegeli-Franceschetti-Jadassohn syndrome (#161000) Dermatopathia pigmentosa peticularis (#125595)	Reticulate pattern of hyperpigmentation in both diseases
KRT17		Krt17						Hair follicle alterations; Abnormal hair follicle melanin granule morphology, hair follicle degeneration
KRT27		Krt27						Hair follicle alterations; Abnormal hair shaft morphology, "both medulla and cortex have areas of dense pigmentation; where medullary structures break down, pigment aggregates on cortical ridges or is scattered"
KRT75		Krt75						Skin morphology alterations; Integument, heavily pigmented and mildly to non-pigmented hair shafts have defects ranging from loose irregular aggregation of pigment, clumping of pigment within the medulla, clumping with focal distention of the shaft, segregation of pigment with a light brown colored medullary abnormality, to breaking of the hair in the middle of these deformities
KRT76		Krt76						Skin morphology alterations; Increased foot pad and tail pigmentation, abnormal epidermal layer morphology
LARP7		Larp7		larp7					Melanocyte amount, ameliorated
LEF1		Lef1		lef1				Absent hair follicle melanin granule, PMID: 7958926; at P3, mutant hair follicles lack melanin granules, however, both epidermal and dermal melanocytes are present, suggesting melanin absence is secondary to arrest in hair follicle development	Melanocyte decreased amount; whole organism decreased pigmentation
LEO1		Leo1		leo1					Head xanthophore decreased amount; head melanocyte decreased amount; trunk melanocyte decreased amount; trunk xanthophore decreased amount
LEP		Lep		lepa					Whole organism decreased pigmentation
LHX2		Lhx2		lhx2b					Eye degree of pigmentation, abnormal; whole organism increased pigmentation
LIPH		Liph		lipia	lipib			Hair follicle alterations; Abnormal hair shaft melanin granule, irregular melanin piles
LMLN		Lmln		lmln					Melanocyte dispersed, abnormal
LMNA		Lmna		lmna				Skin morphology alterations; Abnormal epidermal melanocyte morphology, sparse and gray coat in hets, disheveled hair and ears
LMX1A		Lmx1a		lmx1a				Belly spot, white spotting, belt, dreher (dr)
LOX		Lox		loxa					Pigment cell spatial pattern, abnormal
LRMDA		Lrmda		lrmda		OCA7, Oculocutaneous albinism 7 (#615179)	Hypopigmentation of hair, skin, and irides, hypopigmented retina; freckling		Melanocyte migration disrupted; melanocyte decreased amount; epidermis blistered; whole organism decreased pigmentation
LRSAM1		Lrsam1		lrsam1					Whole organism decreased pigmentation
LTK		Ltk		ltk					Eye iridophore decreased amount; iridophore displaced to trunk; iridophore irregular spatial pattern; melanocyte decreased amount; melanophore stripe spotted, abnormal; trunk melanocyte decreased amount; trunk melanocyte mislocalised
LVRN		Lvrn								Cat mutation; darkened coat color, large blotches
LYST		Lyst		lyst		Chediak-Higashi syndrome (#214500)	Skin and hair hypopigmentation; iris hypopigmentation	Diluted coat color, decreased eye pigmentation, abnormal melanocyte morphology, beige (bg)
MAFB		Mafb		mafba					Whole organism decreased pigmentation
MAGOH		Magoh		magoh				Hypopigmentation, belly spot, dorsal hypopigmentation
MAP1LC3A		Map1lc3a		map1lc3a						Cell-based phenotype; KD decreases melanogenesis; upregulates melanogenesis by increasing ERK-dependent MITF expression; autophagy-related, PMID: 26814135
MAP2K1		Map2k1		map2k1						Cell-based phenotype; increased melanosome transport in Xenopus cells; melanophore treatment with U0126 (inhibitor of the upstream ERK kinase MEK) prevented aggregation; also, constitutively active forms of Map2k1 increased aggregation; PMID: 15753041
MAP2K2		Map2k2		map2k2a						Cell-based phenotype; increased melanosome transport; melanophores were treated with U0126, a potent inhibitor of the upstream ERK kinase known as MEK, & this prevented aggregation; also, constitutively active forms of Map2k2 increased aggregation, PMID: 15753041
MAPK3		Mapk3		mapk3					Whole organism pigmented, abnormal
MASP1		Masp1		masp1					Pigment cell spatial pattern, abnormal; pigmentation process quality, abnormal
MATN1		Matn1		matn1					Eye decreased pigmentation; whole organism decreased pigmentation
MBTPS1		Mbtps1		mbtps1				Abnormal coat/hair pigmentation, hypopigmentation, gray coat, woodrat
MC1R		Mc1r		mc1r		Variation of Skin/hair/eye pigmentation 2 (#266300) Blond hair/fair skin, red hair/fair skin, also modifier of Albinism, oculocutaneous, type II	Red hair/fair skin, blond hair/fair skin freckles	Abnormal melanogenesis, darkened coat, yellow coat color, recessive yellow (e)	Melanocyte dispersed, abnormal; pigmentation delayed, abnormal; melanocyte decreased amount
MC2R		Mc2r		mc2r		Glucocorticoid deficiency (GCCD1), due to ACTH unresponsiveness (#202200)	Hyperpigmentation of skin
				mchr2					KO causes reduced melanin concentration for background color adaptation; PMID: 33301440
MCM2		Mcm2		mcm2				Abnormal coat/hair pigmentation, slight graying sometimes observed in moribund animals
MCM4		Mcm4		mcm4		Immunodeficiency-54 (#609981)	Hyperpigmentation of skin
MCOLN3		Mcoln3		mcoln3a	mcoln3b			Diluted coat color, belly spot, varitint waddler (Va)
MCRS1		Mcrs1		mcrs1					Melanosome assembly "transport phenotype" delayed
MDM2		Mdm2		mdm2				Increased foot pad and tail pigmentation
MDM4		Mdm4		mdm4				Increased foot pad and tail pigmentation
MDN1		Mdn1		mdn1					Melanocyte quality, abnormal
MED12		Med12		med12					Pigment cell irregular spatial pattern, abnormal
MED14		Med14		med14					Melanocyte morphology, abnormal
MED23		Med23		med23					Melanocyte decreased amount; melanocyte decreased size
MEF2C		Mef2c		mef2ca	mef2cb			Regulates melanocyte development, neural crest-specific knockout shows reduced melanocytes at birth, reduced melanosomes, Mef2cflox/–; Wnt1-CreTg/0 (conditional); PMID: 21610032
MEMO1		Memo1		memo1				Abnormal coat/hair pigmentation, alopecia, gray hair in tamoxifen-treated mice (ages 2 wk and 14 wk) Memo1tm1.1Neh/Memo1tm1.1Neh; Tg(CAG-cre/Esr1*)1Lbe/0 (conditional)
MEN1		Men1		men1		Multiple endocrine neoplasia 1 (#131100)	Cafe-au-lait macules, confetti-like hypopigmented macules
MEOX1		Meox1		meox1					Melanocyte decreased amount; melanocyte position, abnormal; trunk melanophore stripe malformed; xanthophore decreased amount; xanthophore spatial pattern, abnormal
MEPCE		Mepce		mepce	si:ch1073-157b13.1				mepce = melanocyte amount, ameliorated
				mespaa					Quadruple mutant, mespaa, mespab, mespba, mespbb = larval melanophore stripe spatial pattern, abnormal, iridophore patchy, abnormal
				mespab					Quadruple mutant, mespaa, mespab, mespba, mespbb = larval melanophore stripe spatial pattern, abnormal, iridophore patchy, abnormal
MESP1		Mesp1		mespba	mespbb				Quadruple mutant, mespaa, mespab, mespba, mespbb = larval melanophore stripe spatial pattern, abnormal, iridophore patchy, abnormal
MFN2		Mfn2		mfn2						Cell-based phenotype; Mfn2 silencing increases pigmentation, melanogenic enzyme expression, and melanosome maturation, PMID: 35203350
MFSD12		Mfsd12		mfsd12a				Gray coat color, loss of pheomelanin band color, grizzled (gr)
MGRN1		Mgrn1		mgrn1a	mgrn1b			Darkened coat color, increased ear pigmentation, abnormal dermal pigmentation, increased foot pad and tail pigmentation, hyperpigmentation, mahoganoid (md)
MIB1		Mib1		mib1					Melanocyte irregular spatial pattern; trunk melanocyte absent
MITF		Mitf (27)		mitfa	mitfb	Waardenburg syndrome type 2A (#193510) Tietz albinism-deafness syndrome (#103500)	Waardenburg syndrome 2A, congenital partial albinism on face, trunk, and limbs, hypopigmented forelock, eyebrows, and eyelashes; heterochromia irides; Tietz albinism-deafness syndrome, fair skin, white eyelashes, eyebrows, and white-blond hair	Absent coat pigmentation, white spotting, belly spot, abnormal eye pigmentation, microphthalmia (mi)	mitfa = eye iridophore absent; iridophore absent; melanocyte absent; pigment cell decreased amount; xanthophore decreased amount
MKKS		Mkks		mkks					Melanosome transport delayed
MKLN1		Mkln1		mkln1				Diluted coat color with age, changing from black to "brighter" color (brownish)
MLANA		Mlana		mlana				Diluted coat color
MLH1		Mlh1		mlh1		Mismatch repair cancer syndrome (#276300)	Hyperpigmentation; cafe au lait spots; axillary freckling
MLPH		Mlph		mlpha	mlphb	Griscelli syndrome 3 (#609227)	Skin hypopigmentation; silver-gray hair	Diluted coat color, dark gray coat, leaden (ln)	mlpha = pigment granule dispersal arrested; melanocyte melanosome aggregated, abnormal
MMP17		Mmp17		mmp17b					Melanocyte spatial pattern, abnormal
MPND		Mpnd		mpnd					Pigmentation decreased occurrence
MPP5		Mpp5		mpp5a					Eye pigmentation disrupted; melanocyte differentiation delayed; retinal pigmented epithelium patchy
MPV17		Mpv17		mpv17				Abnormal coat hair pigmentation, gray at 5 to 6 months, mitochondrial depletion syndrome	Eye iridophore decreased amount; integument translucent, abnormal; melanophore stripe morphology, abnormal; melanocyte decreased amount; pigment cell quality, abnormal
MPZL3		Mpzl3		mpzl3				Abnormal coat/hair pigmentation, pigment in hair follicles changes from black to light brown
MRAP		Mrap		mrap		Glucocorticoid deficiency 2 (#607398)	Hyperpigmentation of skin
MREG		Mreg						Suppresses pigment dilution phenotype, dilute suppressor
MSH2		Msh2		msh2		Mismatch repair cancer syndrome 2 (MMRCS2) (#619096)	Hyperpigmentation; cafe au lait spots; axillary freckling
MSH6		Msh6		msh6		Mismatch repair cancer syndrome 3 (MMRCS3) (#619097)	Hyperpigmentation; cafe au lait spots; axillary freckling
MTREX		Skiv2l2		mtrex					Melanocyte decreased amount
MYC		Myc		mycb				Belly spot, variable spotting, Myctm2Fwa/Myctm2Fwa; H2afvTg(Wnt1-cre)11Rth/0 (conditional)
MYCBP2		Mycbp2		mycbp2					Pigmentation process quality, abnormal; xanthophore decreased pigmentation; xanthophore pigment granule condensed
MYH9		Myh9		myh9a					Pigmentation disrupted
MYO5A		Myo5a		myo5aa	myo5ab	Griscelli syndrome 1 (#214450)	Skin and hair hypopigmentation, silver-gray hair	Diluted coat color, dilute (d)
MYO6		Myo6		myo6a	myo6b			In Snell's waltzer mice that do not express MYO6, choroidal melanocytes generate larger pigmented melanosomes. PMID: 22321127		Cell-based phenotype; regulates actin dynamics, biogenesis of melanosomes; KD increases melanin in melanosomes; regulates delivery of Tyrp1, PMID: 22321127 MYO6 contributes to the generation of tubular carriers from pigmented melanosomes. KD causes increased melanin production in pigment cells associated with increased luminal acidity of pigmented melanosomes and suboptimal melanin transfer in a human coculture system. PMID: 29875258
MYO10		Myo10		myo10				White spotting
MYRIP		Myrip		myrip						Cell-based phenotype; in RPE cells, regulates melanosome motility; localizes to melanosomes; limited melanosome movement in wild-type RPE cells transduced with adenovirus carrying specific sequences to knockdown Myrip expression; part of Rab27a–Myrip–MyoVIIa complex, PMID: 11964381, PMID: 17451552
MYSM1		Mysm1		mysm1				Belly spot, decreased tail pigmentation, PMID: 24721909
NAA10		Naa10		naa10					Whole organism decreased pigmentation
NBN		Nbn		nbn		Nijmegen breakage syndrome (#251260)	Café au lait spots, hypopigmented spots
NCSTN		Ncstn		ncstn					Pigment cell quality, abnormal
NF1		Nf1		nf1a	nf1b	NF1, neurofibromatosis type 1 (#162200)	Cafe au lait spots and freckling	Increased ear, foot pad and tail pigmentation, decreased eye pigmentation	nf1a = lateral larval melanophore stripe melanocyte spatial pattern, abnormal / nf1b = lateral larval melanophore stripe melanocyte spatial pattern, abnormal
NFIB		Nfib								Cell-based phenotype in mouse mutant; knockout in hair follicle stem cells ectopic, differentiated melanocytes, but no hair graying b/c stem cells maintained
NINL		Ninl		ninl					Melanosome transport delayed
NNT		Nnt		nnt		Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency (#614736)	Hyperpigmentation of skin	C57BL/6J carrying Nnt mutation show lighter pigmentation compared to C57BL/6NJ mice with wt Nnt, PMID: 34233163	Overexpression causes decreased melanocyte pigmentation; CRISPR-editing of nnt gene causes increased pigmentation, PMID: 34233163	Darker pigmentation in Nnt siKD cells, redox-dependent and MITF-independent mechanism, PMID: 34233163
NOC3L		Noc3l		noc3l					Melanocyte spatial pattern, abnormal
NOTCH1		Notch1		notch1a	notch1b			Diluted coat color, dispersed gray hairs, in combination with Notch2, Notch1tm1Agt/Notch1tm1Agt; Tg(Tyr-cre)2Lru/0 (conditional)
NOTCH2		Notch2		notch2				Diluted coat color, dispersed gray hairs, more extensive in combination with Notch1, Notch2tm1Frad/Notch2tm1Frad; Tg(Tyr-cre)2Lru/0 (conditional)
NOTO		Noto		noto					Melanocyte displaced to neural tube ventral surface, abnormal; melanocyte distended
NPY		Npy		npy				Mouse model overexpressing NPY showed progressive hair graying as a result of McSC loss, PMID: 34114698
NR0B1		Nr0b1		nr0b1		Adrenal hypoplasia congenita (#300200)	Adrenal insufficiency leading to hyperpigmentation
NR3C1		Nr3c1		nr3c1					Pigmentation delayed; whole organism increased pigmentation under visual background adaptation (VBA) assay
NR4A3		Nr4a3		nr4a3						Horse mutation; premature hair graying and melanoma susceptibility, may be combined effect of STX17 and NR4A3, or effect of one of these genes
NRARP		Nrarp		nrarpa					Melanocyte decreased amount; whole organism decreased pigmentation; trunk neural crest cell decreased amount
NRAS		Nras		nras		Melanocytic nevus syndrome, congenital, somatic (#137550) Neurocutaneous melanosis, somatic (#249400)	Multiple, large, congenital melanocytic nevi	Hyperpigmentation, Nrastm1Tyj/Nrastm1Tyj; Tg(Tyr-cre/ERT2)1Lru/0 (conditional)
NSDHL		Nsdhl		nsdhl				Skin morphology alterations; Irregular coat pigmentation, striped coat, hyperkeratotic plaques
NSF		Nsf		nsfa	nsfb				nsfa = melanocyte dispersed, abnormal / nsfb = retinal pigmented epithelium decreased pigmentation; whole organism decreased pigmentation
NSMCE2		Nsmce2		nsmce2				Abnormal coat/hair pigmentation, gray hair, abnormal skin pigmentation in tamoxifen-treated Nsmce2tm2.1Ofc/Nsmce2tm2.1Ofc; Ndor1Tg(UBC-cre/ERT2)1Ejb/0 (conditional), PMID: 26443207
NUP88		Nup88		nup88					Melanocyte quality, abnormal
OAT		Oat		oat				Abnormal coat/hair pigmentation, abnormal retinal pigment epithleium morphology, hair growth looks delayed, older mice with white hair tips
OCA2		Oca2 (6)		oca2		OCA2, Oculocutaneous Albinism Type II, Brown oculocutaneous albinism, regulates variation of Skin/hair/eye pigmentation 1, blond/brown hair, blue/nonblue eyes (#203200)	Hypopigmentation of skin, hair, irides	Diluted coat color, decreased eye pigmentation, pink-eyed dilution (p)	Melanocyte decreased amount; melanocyte melanosome decreased amount; melanocyte melanosome immature, abnormal; whole organism decreased pigmentation
OCRL		Ocrl		ocrl					Eye decreased pigmentation; melanocyte melanosome spatial pattern, abnormal; whole organism decreased pigmentation; melanosome localization disrupted
OPHN1		Ophn1		ophn1				Transverse fur striping, zigzag hairs are abnormally thin, slightly wavy, and have melanin clumps, wavy tiger
OPN3		Opn3		opn3						KD increases pigment in human epidermal melanocytes; overexpression decreases pigment in human melanoma cells, PMID: 31097585
OPTN		Optn		optn					Pigment cell decreased perimeter, abnormal; pigment cell cell projection increased amount, abnormal	OPTN contributes to the generation of tubular carriers from pigmented melanosomes. KD causes suboptimal melanin transfer in a human coculture system. PMID: 29875258
OSTM1		Ostm1		ostm1				Abnormal coat/hair pigmentation, agouti coat appears gray, grey-lethal (gl)
OTUD5		Otud5		otud5b					Pigmentation decreased occurrence
OVOL1		Ovol1		ovol1a					Axis xanthoblast mislocalised medially; axis melanoblast mislocalised medially
				pabpc1a					pigment cell quality, abnormal; whole organism decreased pigmentation
PAFAH1B1		pafah1b1		pafah1b1a	pafah1b1b				pafah1b1a = pigment cell morphology, abnormal / pafah1b1b = pigment cell morphology, abnormal
PAH		Pah		pah		Phenylketonuria (#261600)	Hypopigmented skin and hair	Hypopigmentation, diluted coat color
PAICS		Paics		paics					Eye pigmented, abnormal; melanocyte pigment granule decreased amount; iridophore pigment granule decreased amount; xanthophore absent
PAK1		Pak1		pak1					Melanocyte decreased amount; melanocyte neural crest cell migration process quality, abnormal; pigmentation decreased process quality, abnormal
PALB2		Palb2		palb2		Fanconia anemia FANCN (#610832)	Hyperpigmentation; cafe au lait spots
PAQR7		Paqr7		paqr7b						Cell-based phenotype; hypopigmentation, mediates progesterone steroid effects on human pigment synthesis; shown in vitro and in organotypic skin tissue, PMID: 27115344
PARD3		Pard3		pard3aa	pard3ab			Increased melanoma/metastasis formation (chemical induction with DMBA/TPA)
PARN		Parn		parn		Dyskeratosis congenita DKCB6 (#616353)	Abnormal skin pigmentation
PARP3		Parp3		parp3					Pigmentation decreased occurrence
PAX3		Pax3		pax3a	pax3b	Waardenburg syndrome 1 (#193500) Waardenburg syndrome 3 (#148820)	Hypopigmented skin regions on face trunk and limbs; hypopigmented forelock, eyebrows, and eyelashes; premature graying; heterochromia irides; hypopigmented irides	Belly spotting, diluted coat color, absent skin pigmentation, splotch (Sp)	pax3a = xanthophore decreased amount; melanoblast decreased amount; melanocyte differentiation delayed; trunk melanocyte mislocalised
PAX7		Pax7		pax7a	pax7b				pax7a/pax7b double mutants = developmental pigmentation disrupted; development of xanthophores disrupted; increased melanophores in development and adults
PCBD1		Pcbd1		pcbd1				Belly spot, hypopigmentation (10%)
PCDH10		Pcdh10		pcdh10a					Reduction causes defects in melanoblast and melanocyte migration, PMID: 29604249
				pcdh10b					In pcdh10a ko, pcdh10b is upregulated; kd of both in melanocytes causes more severe melanocyte defects than in just pcdh10a alone, PMID: 29604249
PCNT		Pcnt		pcnt		Microcephalic osteodysplastic primordial dwarfism type II (#210720)	Hyperpigmentation and hypopigmentation; café au lait spots
PDHB		Pdhb		pdhb					Melanocyte melanosome spatial pattern, abnormal; melanocyte increased area, abnormal; cellular pigment accumulation arrested
PEPD		Pepd		pepd				Abnormal agouti pigmentation, dark‐like (dal)
PFAS		Pfas		pfas				Belly spot, white tail tip
PI4K2A		Pi4k2a		pi4k2a						KD of PI4K2A resulted in the mistargeting of some melanogenic cargoes to melanosomes and is associated with decreased melanin production. Both PI4K2A and PI4K2b enzymes cooperate with BLOC-1 to produce endosomal tubules required for melanosome biogenesis. PMID: 36169639, 36169638
PI4K2B		Pi4k2b		pi4k2b						KD of PI4K2B resulted in the mistargeting of some melanogenic cargoes to melanosomes and is associated with decreased melanin production. Both PI4K2A and PI4K2b enzymes cooperate with BLOC-1 to produce endosomal tubules required for melanosome biogenesis. PMID: 36169639, 36169638

PICALM		Picalm		picalma	picalmb			Diluted coat color, gray, Gt(ROSA)26Sortm1(cre/ERT2)Thl/0; Picalmtm1.1Tmae/Picalmtm1.1Tmae (conditional)
PIGK		Pigk		pigk					Melanocyte area, abnormal; melanocyte increased size, abnormal; pigmentation process quality, abnormal
PIKFYVE		Pikfyve		pikfyve				PMID: 29584722, coat color dilution, PIKfyveFlox/Flox; TyrCreERT2 (conditional), melanocyte-specific KO mice show graying (C57Bl6 background), regulates melanosome trafficking
PKN2		Pkn2		pkn2	zgc:153916				Melanocyte decreased amount, abnormal
PKNOX1		Pknox1		pknox1.1					Melanocyte spatial pattern, abnormal
				plin6					Xanthophore carotenoid vesicle aggregated, abnormal
PLK4		Plk4		plk4					Head melanocyte increased amount; cellular response of melanocyte constriction to light stimulus abnormal
PLXNB2		Plxnb2		plxnb2b				Belly spot, abnormal coat/hair pigmentation
PMCH		Pmch		pmch					pmch expression changes in brain correlate with skin pigment levels; is a key regulator of food intake and energy homeostasis in mammals, but regulates pigment aggregation/coloration in teleosts (most ray-finned fish), PMID: 19827161, Overexpression causes impaired melanin concentration for background color adaptation, PMID: 33301440	Cell-based phenotype; functions to modulate aMSH in human skin, PMID: 12176038
				pmchl					Overexpression causes impaired melanin concentration for background color adaptation, PMID: 33301440
PMEL		Pmel (1)		pmela	pmelb			Abnormal tail pigmentation; abnormal choroid melanin granule morphology; abnormal retinal melanin granule morphology, silver (si)	pmela = melanocyte aggregated, abnormal; melanocyte decreased pigmentation; retinal pigmented epithelium melanosome decreased amount / pmelb = melanosome localization process quality, abnormal; retinal pigmented epithelium melanosome decreased amount
PMS2		Pms2		pms2		Mismatch repair cancer syndrome 4 (MMRCS4) (#619101)	Hyperpigmentation; cafe au lait spots; axillary freckling
PNN		Pnn		pnn					Melanophore stripe decreased thickness; pigmentation disrupted
POC1B		Poc1b		poc1b					Melanocyte mislocalised
POFUT1		Pofut1		pofut1		Dowling-Degos disease 2 (#615327)	Reticular hyperpigmentation and hypopigmentation of the flexures		Whole organism axis decreased pigmentation
POGLUT1		Poglut1		poglut1		Dowling-Degos disease 4 (#615696)	Hyperpigmentation; macular and lentiginous lesions; hyperpigmentation at rete ridges
POGZ		Pogz		pogza					Melanocyte decreased amount, abnormal
POLA1		Pola1		pola1		Pigmentary disorder, reticulate, with systemic manifestations, X-linked (#301220)	Reticulate skin hyperpigmentation
POLG		Polg		polg				Premature graying
POLH		Polh		polh		Xeroderma pigmentosum XPV (#278750)	Pigmented or depigmented macules and patches	Abnormal ear pigmentation upon UV exposure
POLR1A		Polr1a		polr1a					Melanocyte quality, abnormal
POLR2G		Polr2g		polr2gl					Trunk decreased pigmentation
POMC		Pomc		pomca	pomcb	Obesity, adrenal insufficiency, and red hair due to POMC deficiency (#609734)	Pale skin, red hair	Yellow coat color, diluted coat color	pomca = melanocyte melanosome aggregated, abnormal; melanosome localization disrupted
		Pot1b						Hyperpigmentation with age for tails, paws and snout
PPARGC1A		Ppargc1a		ppargc1a				Overexpression induces pigmentation in melanocyte-specific transgenic mice (darkens the fur of Ay/a mice) and also in cell culture, Tyr::rtTA; TetO::PGC-1α transgenics; PMID: 23201126
PPP4C		Ppp4c		ppp4ca					Pigment cell decreased amount
PRDM1		Prdm1		prdm1a					Iridophore decreased pigmentation; melanocyte decreased pigmentation; melanocyte irregular spatial pattern; xanthophore decreased pigmentation
PRICKLE2		Prickle2		prickle2b					KD of prickle2b suppresses bbs7 mutant-related melanosome transport delay; PMID: 24938409
PRKAR1A		Prkar1a		prkar1aa	prkar1ab	Carney complex 1 (CNC1) (#160980)	Hyperpigmentation, profuse pigmented lesions, nevi, lentigines, ephelides
PRKDC		Prkdc		prkdc				Hyperpigmentation of footpad and tail
PRPS1		Prps1		prps1a	prps1b				prps1a = iridophore decreased amount; retinal pigmented epithelium decreased thickness; yolk iridophore decreased amount / prps1b = eye decreased pigmentation; eye iridophore decreased amount; yolk iridophore decreased amount
PSEN1		Psen1		psen1					Trunk melanocyte decreased amount; melanocyte spatial pattern, abnormal
PSEN2		Psen2		psen2					Trunk melanocyte decreased amount; melanocyte spatial pattern, abnormal
PSENEN		Psenen		psenen		Acne inversa, familial, 2, with or without Dowling-Degos disease (#613736)	Reticulate hyperpigmentation in flexural areas, face, trunk, and neck		Pigment cell decreased amount
PTCH1		Ptch1		ptch1				Belly spot	Pigment cell decreased amount
PTCH2		Ptch2		ptch2					Pigment cell decreased amount; retinal pigmented epithelium displaced, abnormal
PTEN		Pten		ptena	ptenb	Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome (#158350)	Hyperpigmentation; lentigines, cafe au lait spots	Hyperpigmentation, Ptentm1Hwu/Ptentm1Hwu; Tg(Tyr-cre)1Lru/0 (conditional)
PTPN6		Ptpn6		ptpn6				Abnormal skin pigmentation, focal depigmentation secondary to immune system affects
PTPN11		Ptpn11		ptpn11a		LEOPARD syndrome 1 (#151100)	Multiple lentigines, cafe au lait spots, darkly pigmented spots	Abnormal melanocyte morphology, reduced number, Ptpn11tm1.1Wbm/ Ptpn11tm1.1Wbm; H2afvTg(Wnt1-cre)11Rth/0 (conditional)	Melanocyte decreased amount; melanocyte mislocalised
PTPN21		Ptpn21		ptpn21					Melanocyte mislocalised
PTS		Pts		pts				Diluted coat color, light hair, and sparse hair
PXDN		Pxdn		pxdn				Belly spot
RAB1A		Rab1a		rab1aa						Cell-based phenotype; functional ablation induced perinuclear melanosome aggregation; long-range anterograde melanosome movements were suppressed in Rab1A-deficient melanocytes, PMID: 22854043
RAB3IP		Rab3ip		rab3ip					Melanosome transport decreased rate
RAB7A		Rab7		rab7a						Cell-based phenotype; regulates TYRP1 trafficking and melanosome transport, PMID: 16965270; PMID: 21352276; is a lineage-specific melanoma driver, but no pigmentation correlation seen; PMID: 24981740
RAB8A		Rab8a		rab8a					Injection of Rab8[T22N] mutation impacts melanosome transport time, PMID: 17574030
RAB9A		Rab9		rab9a						Cell-based phenotype; KD in melanocytes leads to loss of pigment; PMID: 26527546
RAB11A		Rab11a		rab11a					Melanosome transport decreased rate
RAB11B		Rab11b		rab11bb						Cell-based phenotype; mediates melanosome transfer to keratinocytes, siRNA reduces keratinocyte-stimulated melanin release from melanocytes; PMID: 24141907
RAB17		Rab17								Cell-based phenotype; Rab17 KD caused marked accumulation of melanosomes at the periphery, particularly in dendrites; also caused melanin accumulation, PMID: 21291502
RAB27A		Rab27a		rab27a	rab27b	Griscelli syndrome 2 (#607624)	Skin hypopigmentation; silver-gray hair	Diluted coat color, abnormal melanosome transport, hypopigmentation, ashen (ash)
RAB32		Rab32		rab32a						Cell-based phenotype; knockdown in Rab38-deficient cht cells causes loss of pigmentation, thus Rab32 and Rab38 function together to regulate pigmentation and melanogenic enzyme trafficking; PMID: 17043139
RAB36		Rab36		rab36						Cell-based phenotype; regulates retrograde melanosome transport in melanocytes, PMID: 22740695
RAB38		Rab38 (1)		rab38b				Diluted coat color, abnormal eye pigmentation, chocolate (cht)
RAB3A		Rab3a		rab3aa	rab3ab					Cell-based phenotype; mediates melanosome release; stimulated by keratinocyte-conditioned medium, PMID: 36090299
RAB6A		Rab6a		rab6a				In conditional Tyr-specific KO mice, hypopigmentation of RPE and derived melanocyte culture. PMID: 28607494		RAB6A KD resulted in reduced pigmentation and melanosome biogenesis associated with impaired trafficking of DCT and MART1 to maturing melanosomes. PMID: 28607494
RAB44		Rab44		rab44						Regulates retrograde melanosome transport, PMID: 36126775
RABGGTA		Rabggta		rabggta	rabggtb			Diluted coat color, gunmetal (gm)
RAC1		Rac1		rac1a	rac1b			Skin morphology alterations; Abnormal skin pigmentation, white spotting, gray coat with progressive loss of hair, abnormal skin physiology, Rac1tm1Brak/ Rac1tm1Brak; Tg(KRT5-cre)5132Jlj/0 (conditional)
RACK1		Rack1		rack1				Belly spot, decreased foot and tail pigmentation
RAD21		Rad21		rad21a					Melanocyte mislocalised
RAD50		Rad50		rad50				Hyperpigmentation, increased foot pad and tail pigmentation
RADIL		Radil		radil					Iridophore decreased pigmentation; xanthophore decreased pigmentation
RAF1		Raf1		raf1a	raf1b	Noonan syndrome 5 (#611553)	Lentigines, café au lait spots
RAG1		Rag1		rag1				Hypopigmentation of skin and hair, immune-related vitiligo after transplant of CD4-selected splenocytes
RAPGEF2		Rapgef2		rapgef2						Cell-based phenotype; in B16 melanoma cells, melanin production is inhibited in forskolin-stimulated cells; also inhibits dendrite formation & proliferation & promotes apoptosis; PMID: 16272156
RAPH1		Raph1		raph1a				Belly spot, decreased melanocyte cell number at E14.5, Raph1tm1.1Makr/Raph1tm1.1Makr; Tmem163Tg(ACTB-cre)2Mrt/0; Tg(Dct-LacZ)A12Jkn/ Tg(Dct-LacZ)A12Jkn (conditional)
RAX		Rax		rx3					Melanosome localization disrupted; retinal pigmented epithelium quality, abnormal
RB1		Rb1		rb1				Abnormal melanocyte morphology, melanocyte growth defects, Rb1tm1.1Gfk/Rb1tm1.1Gfk; Tg(Tyr-cre)1Gfk/0 (conditional)	Melanocyte area, abnormal
RBPJ		Rbpj		rbpja	rbpjb			Diluted coat color, almost complete hair whitening interspersed with black hairs to produce gray coat, Rbpjtm1Hon/Rbpjtm1Hon; Tg(Tyr-cre)2Lru/0 (conditional)
RECQL4		Recql4		recql4		Rothmund-Thomson syndrome type 2 (#268400)	Premature hair graying, in context of premature aging	Skin morphology alterations; Absent coat pigmentation, patches of colorless hair in 65% of mice, alopecia with hair loss encompassing ~20% of body surface
REST		Rest		rest				Belly spot, Restﬂoxed/+; Wnt1-Cre (conditional); no belly spot seen in other conditional Cre alleles (P0-Cre, K14-Cre, Dct-Cre or Tyr-Cre), PMID: 25818501
REV3L		Rev3l		rev3l				Keratinocyte-specific KO increased pigmentation in mouse skin in response to UV and wound healing; PMID: 30046772
RHBDF2		Rhbdf2						Hair follicle alterations; Abnormal hair shaft melanin granule; "A few tapered ends protrude only a short distance out of the hair shaft. The shafts generally lack hair cells and contain only irregular melanin granules," curly bare
RIC8B		Ric8b		ric8b					Melanocyte irregular spatial pattern; trunk melanocyte aggregated, abnormal; trunk decreased pigmentation
RILP		Rilp		rilp						Cell-based phenotype; regulates melanosome transport; KD is phenocopy of melanoregulin kd in ashen cells; melanoregulin regulates retrograde melanosome transport by interaction with the RILP–p150Glued complex in melanocytes--phenocopy seen for KD of RILP, DCTN1 (p150Glued), and overexpression of DCTN2, PMID: 22275436
RIT1		Rit1		rit1		Noonan Syndrome 8 (#615355)	Hyperpigmentation
RNF2		Rnf2		rnf2					Melanocyte increased branchiness; xanthophore decreased branchiness; xanthophore decreased size
RNF41		Rnf41		rnf41					Melanocyte decreased amount
RPGR		Rpgr		rpgra	rpgrb				rpgrb = pigment granule aggregation in cell center delayed, abnormal
RPL24		Rpl24		rpl24				Belly spot, white spotting, belly spot and tail (Bst)
RPL27A		Rpl27a		rpl27a				Hyperpigmentation of footpad, ear, and tail
RPL38		Rpl38		rpl38				Belly spot, background sensitivity: white hairs on front legs that look like white stockings, Tail short (Ts)
RPS6		Rps6		rps6				PMID: 18641651, Hyperpigmentation in keratinocyte-specific KO, Rps6lox/+; Tg.K5Cre/+ (conditional); hypopigmentation in melanocyte-specific KO, Rps6lox/+; Tg.MitfCre/+ (conditional)
RPS7		Rps7		rps7				Belly spot, montu (Mtu)
RPS14		Rps14		rps14					Pigmentation delayed
RPS19		Rps19		rps19				Hyperpigmentation, abnormal skin pigmentation, increased foot pad and tail pigmentation
RPS20		Rps20		rps20				Abnormal skin pigmentation, increased foot pad pigmentation, PMID: 18641651
RTF1		Rtf1		rtf1					Melanocyte melanosome decreased pigmentation
RUVBL2		Ruvbl2		ruvbl2				Belly spot
RXRA		Rxra		rxrab				Hair follicle alterations; Diluted coat color, alopecia, premature graying, abnormal melanosome morphology, Rxratm2Ipc/Rxratm4Ipc; Tg(KRT14-cre)1Ipc/0 (conditional), also abnormal retinal pigmentation, Rxratm4Ipc/Rxratm4Ipc; Tg(Tyrp1-cre)1Ipc/0 (conditional)
SAMD9						Mirage syndrome (#617053)	Hyperpigmentation, reflective of adrenal insufficiency
SASH1		Sash1		sash1a	sash1b	Dyschromatosis universalis hereditaria-1 (DUH1) (#127500)	PMID:25315659, PMID:26203640, PMID: 27659786, Hyperpigmentation and hypopigmentation; reticulate hypopigmentation and hyperpigmentation; hypo- and hyperpigmented macules; lentiginosis
SCARB2		Scarb2		scarb2a					Melanocyte quality, abnormal; trunk decreased pigmentation
				scn1lab					Whole organism increased pigmentation
SCUBE2		Scube2		scube2					Melanocyte irregular spatial pattern; melanocyte morphology, abnormal
SDC2		Sdc2		sdc2					Pigmentation decreased occurrence, abnormal
SDC4		Sdc4		sdc4					Melanocyte differentiation disrupted, abnormal; melanocyte decreased amount, abnormal
SDF4		Sdf4		sdf4					Whole organism degree of pigmentation, abnormal
SEMA4C		Sema4c		sema4c				Belly spot
SF3B1		Sf3b1		sf3b1					Melanocyte differentiation disrupted
SFPQ		Sfpq		sfpq					Pigmentation process quality, abnormal
SFRP4		Sfrp4						Fewer melanocytes in skin when sFRP4 protein overexpressed in mouse skin by adenovirus infection; sFRP4 normally secreted by keratinocytes, downregulates WNT signaling, prevents melanocyte differentiation, PMID: 28337220
SGPL1		Sgpl1		sgpl1		Nephrotic syndrome 14 (#617575)	Hyperpigmentation, reflective of adrenal insufficiency
SGSM2		Sgsm2		sgsm2						Cell-based phenotype; regulates trafficking of all 3 melanogenic enzymes; PMID: 26620560
SH3BP4		Sh3bp4		sh3bp4	sh3bp4a					Cell-based phenotype; si knockdown reduces melanin content, Tyr activity; show Sh3bp4 is directly upregulated by MITF and directly inhibited by miR-125B, PMID: 28819321
SH3PXD2A		Sh3pxd2a		sh3pxd2aa					Trunk melanocyte decreased amount
SHH		Shh		shha					Caudal fin melanocyte mislocalised
SHOC2		Shoc2		shoc2		Noonan-like syndrome with loose anagen hair 1 (#607721)	Skin hyperpigmentation
SHROOM2		Shroom2		shroom2a	shroom2b					Xenopus mutation; cell-based melanocye phenotype showing regulation of melanosome biogenesis and localization, and RPE pigmentation defects
SIK2		Sik2		sik2a	sik2b			Darkened coat color, brown (agouti-like) hair on the dorsal region and slightly darker hair on ventral region when compared with Ay/a mice
SIX6		Six6		six6b					Pigmentation process quality, abnormal
SLC2A1		Slc2a1		slc2a1a	slc2a1b				slc2a1a = whole organism decreased pigmentation, abnormal / slc2a1b = whole organism decreased pigmentation, abnormal
SLC2A11				slc2a11b					Xanthophore absent
SLC7A5		Slc7a5		slc7a5						SLC7A5 is a MITF-target gene. RNA-mediated knock-down of Slc7a5 or using a 2-amino-2-norbornanecarboxylic acid (BCH), an inhibitor of Slc7a5, in mouse B16F10 cells, human MNT1 melanoma cells and normal human melanocytes decreased pigmentation. PMID: 32240722
SLC7A11		Slc7a11		slc7a11				Diluted coat color, graying, yellow hair pigment is reduced, black pigment is unaffected, subtle gray (sut)
SLC12A2		Slc12a2		slc12a2					Pigment cell quality, abnormal
SLC16A2		Slc16a2		slc16a2					Whole organism decreased pigmentation, abnormal
SLC17A5		Slc17a5		slc17a5		Sialic acid storage disorder, infantile (#269920)	Hypopigmented skin and hair
SLC17A6		Slc17a6		slc17a6b					Pigmentation process quality, abnormal
SLC22A7		Slc22A7		slc22a7b.1					Melanocyte quality, abnormal
SLC24A5		Slc24a5		slc24a5		OCA6, Oculocutaneous albinism, type 6 (#113750)	Hypopigmented skin, hair, irises	Abnormal coat/hair pigmentation, abnormal dermal pigmentation, abnormal iris pigmentation	Integument melanocyte decreased amount; melanocyte absent; cellular pigmentation process quality, abnormal; retinal pigmented epithelium unpigmented; melanophore stripe decreased; whole organism decreased pigmentation; melanocyte unpigmented
SLC29A3		Slc29a3		slc29a3		Histiocytosis-lymphadenopathy plus syndrome (#602782)	Skin hyperpigmentation, pigmented hypertrichosis
SLC30A4		Slc30a4		slc30a4				Abnormal coat/hair pigmentation, portions of black, nonagouti hair can show bronzing effect, becoming reddish in patches, abnormal zinc homostasis, lethal-milk (lm)
SLC31A1		Slc31a1		slc31a1				Hypopigmentation, Slc31a1tm2Djt/ Slc31a1tm2Djt, Tg(Vil1-cre)997Gum/0 (conditional), copper transporter
SLC36A1		Slc36a1		slc36a1						Horse mutation; Champagne color, hypopigmentation, dilution of skin, hair, and eye, PMID: 18802473
SLC40A1		Slc40a1		slc40a1					Eye decreased pigmentation; trunk decreased pigmentation
SLC45A2		Slc45a2		slc45a2		OCA4, Oculocutaneous albinism, type 4, coding region alterations affect variation of Skin/hair/eye pigmentation 5, black/nonblack hair, dark/fair skin, dark/light eyes (#606574)	Hypopigmented skin, hair, irides	Abnormal skin pigmentation, hypopigmentation, diluted coat color, abnormal eye pigmentation	Melanocyte decreased pigmentation; melanocyte absent; melanocyte decreased pigmentation; retinal pigmented epithelium unpigmented, abnormal; whole organism colorless; whole organism decreased pigmentation
SMARCA4		Smarca4		smarca4a				PMID: 28431046, white spotting, Smarca4 Mos6/+; Sox10 LacZ/+ double heterozygous mice show synergistic increase in white spotting, also neural crest-specific KO causes melanoblast reduction Smarca4tm1.2Pcn; Tg(SOX10-cre)1Wdr (conditional)	Melanocyte decreased amount; retinal pigmented epithelium decreased pigmentation; whole organism decreased pigmentation
SMARCA5		Smarca5		smarca5				PMID: 15890782, PMID: 17450140, heterozygous Smarca5 mutation causes dominant mottled coat with in mice with variegated allele of a, Avy/a, paternal effect, study measuring epigenetic changes/methylation
SMARCAL1		Smarcal1		smarcal1		Schimke immunoosseous dysplasia (#242900)	Hyperpigmentation, numerous lentigines
SMARCD1		Smarcd1		smarcd1					Melanocyte decreased amount
SMCHD1		Smchd1		smchd1				PMID: 15890782, PMID: 18425126, study measuring epigenetic changes at variegated allele of a, Avy, affects percentage of female yellow pups on Avy background, X-inactivation role
SMO		Smo		smo		Curry-Jones syndrome (#601707)	Hypopigmented streaky lesions		Caudal fin melanocyte mislocalised
				smtlb					Melanosome aggregation; recombinant protein induced melanosome aggregation in a concentration-dependent manner; PMID: 16259984
SNAI2		Snai2		snai2		Waardenburg Syndrome 2D (#608890) Piebaldism (#172800)	Hypopigmented skin regions on face, trunk and limbs; hypopigmented forelock, eyebrows, and eyelashes; hyperpigmented borders of hypopigmented areas; premature graying; heterochromia iridis	Head blaze, variable body spotting
SNAP29		Snap29		snap29					Pigmentation disrupted
SNRPC		Snrpc		snrpc					Whole organism decreased pigmentation
SOX2		Sox2		sox2				PMID: 35858560, Sox2 regulates pigment switching to govern pheomelanin vs. eumelanin production; Sox2 also regulates BMP signaling to govern eumelanin production; Previous inconsistent data: PMID: 15846349, Ysb mutation (complex chromosomal rearrangement caused by transgene insertion upstream of Sox2) was crossed with a Sox2 targeted null; "Similar to Ysb/Ysb and Lcc/Lcc mutants, Ysb/Sox2bgeo compound heterozygotes exhibited yellow coats as well as circling and deafness, indicating non-complementation;" Conversely, PMID: 22186729, Sox2fl/fl; Wnt1Cre mice (conditional) showed increased embryonic melanoblast numbers, but at postnatal (P)5 "revealed no increase in skin color and melanocyte numbers in hair follicles of the back skin"
SOX5		Sox5		sox5						Medaka mutation; melanocyte phenotype, fate switch in pigment cell development, PMID: 24699463
SOX9		Sox9		sox9a	sox9b			Diluted coat color, white spotting, Tg(Dct-SOX9)aCeb, transgenic (two lines generated)	sox9a = iridophore decreased amount; melanocyte increased size, abnormal / sox9b = iridophore decreased amount; melanocyte increased size, abnormal
SOX10		Sox10 (2)		sox10		Waardenburg syndrome 2E (#611584) Waardenburg syndrome 4C (#613266) PCWH syndrome (#609136)	All 3 syndromes show hypopigmented skin regions; hypopigmented forelock, eyebrows, and eyelashes; premature graying, heterochromia irides; bright blue irides; WS2E also reports cafe au lait spots; freckling	Belly spot, diluted coat color, decreased foot and tail pigmentation	Melanocyte decreased amount; pigment cell irregular spatial pattern; xanthophore morphology, abnormal
SOX18		Sox18		sox18				Darkened coat color, reduced subapical pheomelanin band
SPAG9		Spag9		spag9a				Diluted coat color, pale skin
SPIRE1		Spire1		spire1a	spire1b			No obvious pigmentation phenotype in KO mice. PMID: 24345451		Spire1 KD/KO in melanocytes induce melanosome clustering around the nucleus. SPIRE1 appears to be required for normal melanosome dispersion. PMID: 32661310
SPIRE2		Spire2		spire2				No obvious pigmentation phenotype in KO mice. IMPC		Spire2 KD/KO in melanocytes induce melanosome clustering around the nucleus. SPIRE2 appears to be required for normal melanosome dispersion. PMID: 32661310
SPRED1		Spred1		spred1		Legius syndrome (#611431)	Cafe-au-lait spots, axillary freckling
SRC		Src		src				Diluted coat color, varies on genetic background
SRM		Srm		srm					Integument pigmentation disrupted; melanophore stripe decreased width; melanophore stripe patchy; integument xanthophore mislocalised
ST3GAL5		St3gal5		st3gal5		Salt and pepper developmental regression syndrome (#609056)	Hyperpigmented 2 to 5-mm macules mainly on the extremities, 'salt and pepper' pigmentary changes
STAR		Star		star		Lipoid adrenal hyperplasia (#201710)	Congenital hyperpigmentation, from intrauterine glucocorticoid deficiency
STIM1		Stim1		stim1a	stim1b				stim1a = PMID: 29311116, KD reduces melanin content and melanophore pigmentation (melanoblast and melanophore number/location normal) / stim1b = no influence pigmentation	Cell-based phenotype; regulates melanin production; stim1b shown not to influence pigmentation, PMID: 29311116
STK11		Stk11		stk11		Peutz-Jeghers syndrome (#175200)	Hyperpigmented spots on hands (especially palms), arms, feet (especially plantar areas), legs, and lips
STX3		Stx3		stx3a						Cell-based phenotype; Stx3 regulates melanosomal localization of TYRP1, and KD reduces melanin content; PMID: 23549422
STX12		Stx12		stx12						Cell-based phenotype; kd reduces pigmentation of melanocytes in vitro; interacts with VAMP7; regulates cargo delivery from recycling endosomes during melanosome biogenesis, PMID: 26208634
STX17		Stx17		stx17						Horse mutation; gray phenotype is caused by a 4.6-kb duplication in intron 6 of STX17; both STX17 and the neighboring NR4A3 gene are overexpressed in melanomas from Gray horses; phenotypes in Gray horses may be caused by overexpression of both STX17 and NR4A3, or of one of these alone, PMID: 18641652
STXBP1		Stxbp1		stxbp1a	stxbp1b				stxbp1a = whole organism increased pigmentation / stxbp1b = whole organism increased pigmentation
SUFU		Sufu		sufu				Darkened coat on agouti background, increased pigmentation of tail and paws, ventral alopecia
SULF1		Sulf1		sulf1					Lateral larval melanophore stripe has fewer parts of type melanocyte
SUPT5H		Supt5		supt5h					Melanocyte decreased amount; whole organism decreased pigmentation
SUPT6H		Supt6		supt6h					Pigmentation process quality, abnormal
SYTL2		Sytl2		sytl2a	sytl2b					Cell-based phenotype; binds RAb27a, required for peripheral melanosome distribution and elongated cell shape in melanocytes; slp2-a = Sytl2
SZT2		Szt2		szt2				Diluted coat color
TACO1		Taco1		taco1				Grizzled coat color
TAF4		Taf4		taf4a				Melanocyte growth defects, Taf4tm1Idvd/Taf4tm1Idvd; Tg(KRT14-cre/ERT2)1Ipc/0 (conditional) mice show "invasive melanocytic tumors" upon treatment with the mutagen DMBA, PMID: 17626060
TBC1D10A		Tbc1d10a		tbc1d10ab						Cell-based phenotype; functions as GTPase activating protein for Rab27a and induces melanosome aggregation in mouse melanocytes
TBC1D10B		Tbc1d10b		tbc1d10b						Cell-based phenotype; functions as GTPase activating protein for Rab27a and induces melanosome aggregation in mouse melanocytes
TBCD		Tbcd		tbcd					Whole organism degree of pigmentation, abnormal
TBX10		Tbx10		tbx10				Hypopigmentation, head spot, Dancer (Dc)
TBX15		Tbx15		tbx15				Abnormal ventral coat pigmentation, "in combination with at and Aw, lighter belly hair comes up farther on the sides and face than patterning of at or Aw", PMID: 14737183, droopy ear (de) mutant
TBX19		Tbx19		tbx19				Hypopigmentation, abnormal ventral coat pigmentation, yellow ventrum pigmentation, instead of light gray pigmentation in controls
TENM3		Tenm3		tenm3					Pigment accumulation process quality, abnormal
TERF1		Terf1		terf1				Skin morphology alterations; Hyperpigmentation, Terf1tm1.1Blas/Terf1tm1.1Blas; Tg(KRT5-cre)1Tak/0
TERF2		Terf2		terfa				K5-Terf2 transgenic, PubMed:16142233, hyperpigmented skin in sun-exposed areas
TERF2IP		Terf2ip		terf2ip				Hyperpigmentation, Terf2iptm1.1Blas/Terf2iptm1.1Blas; Tg(KRT5-cre)1Tak/0 (conditional)
TERT		Tert		tert		Dyskeratosis congenita DKCA2 (#613989)	Graying hair; reticulated skin hyperpigmentation
TET2		Tet2		tet2					Pigmentation process quality, abnormal, in combination with tet3
TET3		Tet3		tet3					Pigmentation process quality, abnormal, in combination with tet2
TFAP2A		Tfap2a		tfap2a				Belly spot, abnormal foot and tail pigmentation, Tfap2atm1Hsv/ Tfap2atm2Will; H2afvTg(Wnt1-cre)11Rth/0 (conditional), also abnormal retinal pigment epithelium, Tfap2atm1Will/ Tfap2atm1Will	Melanocyte absent; melanocyte differentiation disrupted; melanocyte pigment granule decreased amount; pigmentation disrupted; retinal pigmented epithelium mislocalised
TFAP2C		Tfap2c		tfap2c					Melanocyte absent
TFAP2E		Tfap2e		tfap2e					Melanocyte differentiation disrupted; melanocyte pigment granule decreased amount
TFPI2		Tfpi2		tfpi2					Whole organism decreased pigmentation
TGFBR2		Tgfbr2		tgfbr2a	tgfbr2b			PMID: 20144786, Graying in mice with melanocyte-specific KO, TGFBRIIfx/fx; Dctcre/cre mice (conditional), ectopic pigmented melanocytes with dendritic morphology
THRA		Thra		thraa					Whole organism decreased pigmentation
TINF2		Tinf2		tinf2		Dyskeratosis congenita DKCA3 (#613990)	Graying hair; reticulated skin hyperpigmentation
TJP1		Tjp1		tjp1a					Iridophore structure, abnormal; melanocyte decreased amount; melanophore stripe broken; xanthophore displaced to melanophore stripe
TLN1		Tln1		tln1				Autoinhibition-defective Tln1 mutant mice show belly spots (reduced ventral follicular melanocytes), hypopigmented tail tips and feet; primary mutant melanocytes show greater adhesion, less migration; PMID: 32580934
TMPRSS6		Tmprss6		tmprss6					Whole organism decreased pigmentation
TP53		Trp53		tp53				Darkened coat color, abnormal digit and footpad pigmentation, increased tail pigmentation	Pigmentation sporadic, abnormal
TP63		Trp63		tp63		ADULT syndrome (#103285)	Hypopigmentation of skin and hair, and hyperpigmentation, intense freckling
TPCN2		Tpcn2		tpcn2		Coding region alterations affect variation of skin/hair/eye pigmentation 10, blond/brown hair (#612267)	Blond/brown hair		Eye decreased pigmentation; trunk decreased pigmentation
TRAF6		Traf6		traf6				Skin morphology alterations; Abnormal skin pigmentation, lighter skin color at birth, with gradual pigmentation, alopecia, Traf6tm1Jino/ Traf6tm1Jino
TRAPPC6A		Trappc6a						Irregular coat pigmentation, abnormal melanosome morphology, abnormal retinal pigmentation
TRIM32		Trim32		trim32					Melanosome transport delayed
TRIM33		Trim33		trim33					Iridophore degree of pigmentation, abnormal; iridophore increased amount; iridophore irregular spatial pattern
TRPM1		Trpm1		trpm1b						Horse mutant; white spotting and blindness, differential expression in retina and pigmented/unpigmented skin of appaloosa horses; no human dermal pigment phenotype, but causes congenital stationary night blindness
TRPM7		Trpm7		trpm7				PMID: 22203997, hypopigmentation; white hair due to missing melanoblasts/melanocytes seen in neural crest-specific knockout, Trpm7fl/fl; Pax3-Cre (conditional)	Melanocyte colorless; melanocyte differentiation disrupted; melanocyte irregular spatial pattern; melanocyte melanosome malformed
TSC1		Tsc1		tsc1a	tsc1b	Tuberous sclerosis complex 1 (#191100)	Hypopigmentation, hypomelanotic macules
TSC2		Tsc2		tsc2		Tuberous sclerosis complex 2 (#613254)	Hypopigmentation, hypomelanotic macules
TSHR		Tshr		tshr					In mutation causing constitutive tshr activation, melanocyte decreased amount; xanthophore increased amount; xanthophore differentiation abnormal / in hypomorphic allele, opposite observed (increased melanocytes, decreased xanthophores)
				tspan36					Melanophore stripe irregular spatial pattern; melanocyte decreased cellular motility; melanocyte confluent with xanthophore
TTC8		Ttc8		ttc8					pigmentation disrupted; eye lighter in figure image
				tuba8l3					Melanocyte quality, abnormal; pigment cell irregular spatial pattern; pigment cell decreased amount
TXNRD1		Txnrd1						Melanocyte-specific knockout model (Txnrd1mel -/-) shows ventral spotting, hypopigmentation of tail, ears, and paws, and increased sensitivity to UV irradiation, PMID: 35031135
TYMS		Tyms		tyms					Melanocyte quality, abnormal; retinal pigmented epithelium quality, abnormal
TYR		Tyr (24)		tyr		OCA1A, Oculocutaneous albinism, type IA (#203100) OCA1B, Oculocutaneous albinism type IB (#606952) coding region alterations affect variation of skin/hair/eye pigmentation 3, blue/green eyes, light/dark/freckling skin	Absence of skin, hair, and iris pigmentation	Absent coat pigmentation, diluted coat pigmentation, abnormal eye pigmentation, albino (c)	Iridophore morphology, abnormal; melanocyte decreased pigmentation; retinal pigmented epithelium melanosome absent
TYRP1		Tyrp1 (3)		tyrp1a	tyrp1b	OCA3, Oculocutanous albinism, type III, coding region alterations affect variation of skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair) (#203290)	Hypopigmented skin, hair, and irides, in some dark-skinned individuals, bright copper-red coloration of skin and hair and dilution of iris pigmentation	Diluted coat color, abnormal iris pigmentation, decreased eye pigmentation, brown (b)	tyrp1a = melanocyte colorless; retinal pigmented epithelium brown, abnormal; melanocyte melanosome decreased amount / tyrp1b = dermis melanocyte decreased size, abnormal; melanocyte brown, abnormal; retinal pigmented epithelium brown, abnormal
UBXN4		Ubxn4		ubxn4					Melanophore stripe disorganized; melanocyte differentiation delayed
UCHL3		Uchl3		uchl3					Pigmentation decreased occurrence
UQCRFS1		Uqcrfs1		uqcrfs1				Abnormal dorsoventral coat patterning, dorsal coat darkens from brown to "black hair" and then turns to gray with age
USB1		Usb1		usb1					Pigmentation process quality, abnormal
USF2		Usf2		usf2				Abnormal ventral coat pigmentation, 10% of homozygotes have belly spot
USP3		Usp3		usp3					Pigmentation decreased occurrence
USP7		Usp7		usp7					Pigmentation decreased occurrence
USP9X		Usp9x		usp9		Mental retardation, X-linked 99, syndromic, female-restricted (#300919)	Skin pigmentary abnormalities following the lines of Blaschko
USP10		Usp10		usp10					Pigmentation decreased occurrence
USP13		Usp13		usp13					Pigmentation decreased occurrence
USP20		Usp20		usp20					Pigmentation decreased occurrence
USP28		Usp28		usp28					Pigmentation decreased occurrence
USP36		Usp36		usp36					Pigmentation decreased occurrence
USP43		Usp43		usp43a					Pigmentation decreased occurrence
USP45		Usp45		usp45					Pigmentation decreased occurrence
USP48		Usp48		usp48					Pigmentation decreased occurrence
USP53		Usp53		usp53a					Pigmentation decreased occurrence
UVRAG		Uvrag		uvrag					Morphilno kd causes reduced pigmented melanocytes; PMID: 30061422	Cell-based phenotype; KO causes hypopigmentation and melanosome mislocalization in cultured B16 cells, stable overexpression causes hyperpigmentation
UVSSA		Uvssa		uvssa		UV-sensitive syndrome 3 (UVSS3) (#614640)	Freckling and modest pigmentation anomalies, Xeroderma pigmentosum-like symptoms
UXT		Uxt		uxt					Whole organism decreased pigmentation
VAC14		Vac14		vac14				Diluted coat color
VAMP7		Vamp7		sybl1						Cell-based phenotype; kd reduces pigmentation of melanocytes in vitro; interacts with STX12; regulated by BLOC-1 and BLOC-3 and cycles to and from melanosomes to aid in trafficking and secretion of pigment enzymes, PMID: 27482051, PMID: 26208634
VANGL1		Vangl1		vangl1				Hyperpigmented paws; PMID: 25340873
VDAC1		Vdac1		vdac1				Vdac1 knockout mouse shows upregulated levels of MItf and melanogenic enzymes, but no change in overall pigment levels, and no visible pigment phenotype, PMID: 35649693		Cell-based phenotype; KD increases pigmentation and expression of Mitf and melanogenic enzymes, PMID: 35649693
VDR		Vdr		vdrb					Whole organism decreased pigmentation
VPS11		Vps11		vps11					Eye decreased pigmentation; head iridophore decreased amount; head melanocyte decreased pigmentation; melanocyte melanosome aggregated, abnormal; melanophore stripe melanosome morphology, abnormal
VPS18		Vps18		vps18					Integument pigment granule sparse, abnormal; iridophore decreased amount; melanocyte decreased amount; trunk decreased pigmentation
VPS33A		Vps33a		vps33a				Diluted coat color, abnormal eye pigmentation, abnormal melanosome morphology, hypopigmentation, buff (bf)
VPS39		Vps39		vps39					Integument melanocyte colorless; retinal pigmented epithelium melanocyte colorless
WASHC1		Washc1		wash1						WASH complex (including WASHC1) contributes to the generation of tubular carriers from pigmented melanosomes. KD causes increased melanin production in pigment cells and suboptimal melanin transfer in a human coculture system. PMID: 29875258
WDPCP		Wdpcp		wdpcp					Pigment cell quality, abnormal
WDR73		Wdr73		wdr73					Whole organism decreased pigmentation
WIF1		Wif1		wif1						Cell-based phenotype; increases pigmentation in human melanocytes in culture; also causes increased pigmentation in organ cultured human skin, PMID: 22951732, PMID: 24131586
WIPI1		Wipi1		wipi1						Cell-based phenotype; KD blocks melanosome maturation; coordinates melanogenic gene transcription and melanosome formation via TORC1 inhibition, PMID: 21317285
WNT1		Wnt1		wnt1				PMID: 9353119, PMID: 10963668, Neural crest defects; mouse embryos deficient for both Wnt1 and Wnt3a have a marked deficiency in trunk neural crest derivatives including NC-Ms; also Wnt1 shown to regulate melanocyte development by neural crest lineage gene targeting
WNT3A		Wnt3a		wnt3a				PMID: 9353119, PMID: 22710324, PMID: 22465131, neural crest defects; mouse embryos deficient for both Wnt1 and Wnt3a have a marked deficiency in trunk neural crest derivatives including NC-Ms; also shown to promote melanogenesis
WNT7A		Wnt7a		wnt7aa	wnt7ab			Abnormal skin appearance, "black bumps are found on the skin of the upper surface of the paws," two independent mouse lines with similar phenotype, also cellular phenotype, PMID: 20589917, PMID: 25705850
WRAP53		Wrap53		wrap53		Dyskeratosis congenita DKCB3 (#613988)	Reticulated skin hyperpigmentation
WRN		Wrn		wrn		Werner Syndrome (#277700)	PMID: 29146545, hypopigmentation; premature hair graying
XPA		Xpa		xpa		Xeroderma pigmentosum XPA (#278700)	Pigmented or depigmented macules and patches
XPC		Xpc		xpc		Xeroderma pigmentosum XPC (#278720)	Pigmented or depigmented macules and patches
YWHAE		Ywhae		ywhae1				Belly spot, 14-3-3εfl/fl/14-3-3ζ−/−/Wnt1-Cre+ (conditional); conditional KO of Ywhae causes white spotting, larger spots in ko along with Ywhaz, PMID: 27001213
YWHAZ		Ywhaz		ywhaz				Belly spot; 14-3-3εfl/fl/14-3-3ζ−/−/ Wnt1-Cre+ (conditional); conditional KO of Ywhae causes white spotting, larger spots in ko along with Ywhaz, PMID: 27001213
YY1		Yy1		yy1a				Gray hair, melanocyte-specific KO, Yy1f/f; Tyr-Cre (conditional), visible soon after birth, loss of melanocyte development, PMID: 22570637
ZBTB17		Zbtb17		zbtb17				Skin morphology alterations; Darkened coat color, hyperkeratosis, abnormal epidermal morphology, focal areas in dermis and subcutis around hair follicles with high melanin content, Zbtb17tm1Cksn/ Zbtb17tm1Cksn; Krt14tm1(cre)Wbm/Krt14+
ZDHHC21		Zdhhc21		zdhhc21				Hair follicle alterations; Abnormal hair shaft melanin granule morphology, clumps of pigment appear to be the remains of degenerating follicles, depilated
ZEB2		Zeb2		zeb2a	zeb2b			Hypopigmentation, developmental loss of hair pigmentation, Zeb2fl/fl; Tyr::Cre (conditional), a.k.a. Zfhx1b; PMID: 24769727
ZIC2		Zic2		zic2a	zic2b			Belly spot, kumba (Ku)	zic2a = melanoblast aggregated, abnormal; melanocyte migration decreased process quality; xanthophore differentiation decreased process quality / zic2b = melanoblast aggregated, abnormal; melanocyte migration decreased process quality; xanthophore differentiation decreased process quality
ZMPSTE24		Zmpste24		zmpste24		Mandibuloacral dysplasia with type B lipodystrophy (#608612)	Mottled hyperpigmentation

Note: The previous Color Genes table (updated till 2011) is still available here.

This WEB page is maintained by Lluis Montoliu (CNB-CSIC, Madrid, Spain)