Color Genes WEB site

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 biologyPigment cell & melanoma research32(3), 348–358. https://doi.org/10.1111/pcmr.12743

Current number of genes listed: 662

Last update: 2 March 2021

(*) 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)    
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

Click to see mouse pictures of Adamsts20 alleles (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
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

Click to see mouse pictures of a alleles (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) (2 patients)

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      
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  
 
 
 
 
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    
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  
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

Click to see mouse pictures of Dct alleles (4)

 
dct
 
OCA8, Oculocutaneous albinism type 8

(#619165) (2 patients)

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      
 
 
 
 
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  
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

Click to see mouse pictures of Adamsts20 alleles (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

Click to see mouse pictures of Ednrb alleles (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  
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

Click to see mouse pictures of Fig4 alleles (1)

 
fig4a
 
    Hypopigmentation, diluted coat color, pale tremor (plt)    
FLNA
 
Flna
 
flna
 
Terminal osseous dysplasia

(#300244)

Pigmentary skin anomalies on face and scalp      
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
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)    
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, Itgb1tm1Ref/Itgb1tm1Ref; 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
KIT
 
Kit

Click to see mouse pictures of Kit alleles (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  
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

Click to see mouse pictures of pwk alleles (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
        Cell-based phenotype; regulates actin dynamics, biogenesis of melanosomes; KD increases melanin in melanosomes;  regulates delivery of Tyrp1, PMID: 22321127
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      
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  
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

Click to see mouse pictures of p alleles (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    
OPTN
 
Optn
 
optn
 
      Pigment cell decreased perimeter, abnormal; pigment cell cell projection increased amount, abnormal  
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    
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

Click to see mouse pictures of Adamsts20 alleles (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

Click to see mouse pictures of Rab38 alleles (1)

 
rab38b
 
    Diluted coat color, abnormal eye pigmentation, chocolate (cht)    
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  
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
 
    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

Click to see mouse pictures of Sox10 alleles (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    
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  
TYMS
 
Tyms
 
tyms
 
      Melanocyte quality, abnormal;  retinal pigmented epithelium quality, abnormal  
TYR
 
Tyr

Click to see mouse pictures of Tyr alleles (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

Click to see mouse pictures of Tyr alleles (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    
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  
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)