Coat Colour Genes at ESPCR

Current symbol	Murine Locus (pictures)	Mouse Chrom.	Human Locus	Human Chromosome	Associated Disease	Protein Encoded	Function in Pigmentation	All NCBI Databases	Zebrafish locus
Development
*Adam17*	Adam17	12	*ADAM17*	2p25	Unknown	a disintegrin and metalloproteinase domain 17	Protease, processing various surface proteins		adam17a adam17b
*Adamts20*	belted (bt) (1)	15	*ADAMTS20*	12q12	Unknown	A disintegrin and metalloprotease domain (reprolysin type) with thrombospondin type 1 motif, 20 in situ	Metalloprotease. Melanoblast migration?		Unknown
*Apc*	Adenomatous polyposis coli, allele tm2Rak	18	*APC*	5q22.2	Adenomatous polyposis coli	The APC gene encodes a multidomain protein that is an integral part of the beta-catenin and plays a major role in tumor suppression by antagonizing the WNT in situ	prenatal dorsal dark stripe and head patch		*apc*
*Bmpr1a*	Bone morphogenetic protein receptor, type 1A, allele tm1Bh	14	*BMPR1A*	10q23.2	Juvenile polyposis syndrome	Bone morphogenetic protein receptor, type 1A in situ	Abnormal prenatal RPE with discontinuity in pigmentation		*bmpr1a* *bmpr1ab*
*Bmpr1b*	Bone morphogenetic protein receptor, type 1B, allele tm1Kml	3	*BMPR1B*	4q22.3	Brachydactyly, types A2, C; chondrodysplasia	Bone morphogenetic protein receptor, type 1B in situ	Abnormal prenatal RPE with discontinuity in pigmentation		*bmpr1b*
*Brca1*	Brca1	11	*BRCA1*	17q21	Breast/ovarian cancer	Tumor suppressor	Development of various organs		Unknown
*Eda*	Tabby (Ta)	X	*ED1*	Xq12-q13	Ectodermal dysplasia type 1	ectodysplasin-A in situ	Sweat gland, tooth and hair morphogenesis		eda
*Edn3*	lethal spotting (ls)	2	*EDN3*	20q13.2-q13.3	Waardenburg-Shah Syndrome	endothelin 3 in situ	melanocyte development		Unknown
*Ednrb*	piebald spotting (s) (2)	14	*EDNRB*	13q22	Hirschsprung's disease type 2	endothelin receptor B in situ	melanoblast differentiation		ednrb1
*Ece1*	Endothelin converting enzyme 1, allele tm1Reh	4	*ECE1*	1p36.12	Unknown	Endothelin converting enzyme 1 in situ in situ	No melanocytes in uvea, dorsal skin at birth (perinatal lethal)		Unknown
*Egfr*	dark skin 5 (dsk5)	11	*EGFR*	7p12.3	Unknown	epidermal growth factor receptor in situ	Growth factor receptor		egfr
*En1*	Engrailed 1	1	*EN1*	2q14.2	Unknown	Homeobox protein engrailed-1 in situ	Hyperpigmentation of digits (polydactyly etc)		eng1a eng1b
*Fgfr2*	Fgfr2	7	*FGFR2*	10q26	Crouzon syndrome Apert syndrome Pfeiffer syndrome	Fibroblast growth factor receptor 2 in situ	Growth factor receptor		fgfr2
*Fkbp8*	FK506 binding protein 8, allele tm1Tili	8	*FKBP8*	19p13.11	Unknown	FK506 binding protein 8 in situ	Microphthalmia/ anophthalmia		*fkbp8*
*Foxn1*	forkhead box N1, allele tw (traveling wave)	11	*FOXN1*	17q11.2	Unknown	forkhead box protein N1 in situ	Hairless. Waves of dark/light travel slowly over skin (possible normal hair cycle + very short hairs)		*foxn1*
*Frem2*	Fras1 related extracellular matrix protein 2 allele my-F11	3	*FREM2*	13q13.3	Fraser syndrome	Fras1 related extracellular matrix protein 2 in situ in situ	Microphthalmia/ anophthalmia, patches of discolored or white fur		Unknown
*Fzd4*	frizzled homolog 4 (Drosophila), allele tm1Nat	7	*FZD4*	11q14.2	Exudative vitreoretinopathy 1	7-transmembrane domain protein that is receptors for Wnt signaling proteins in situ in situ	Many abnormalities including light or silvered coat		fzd4
*Gas1*	growth arrest specific 1, allele tm1Fan	13	*GAS1*	9q21.33	Holoprosencephaly	growth arrest specific 1 in situ in situ in situ in situ	RPE transdifferentiates to neural retina		gas1a gas1b
*Gata3*	GATA binding protein 3, allele tm3Gsv	2	*GATA3*	10p14	hypoparathyroidism, sensorineural deafness, and renal disease (HDR) syndrome, Barakat syndrome	GATA binding protein 3, transcription factor in situ in situ	Extra stem-like cells in hair follicles; abnormal hair, irregular pigment deposition		*gata3*
*Gnaq*	dark skin 1 (dsk1) dark skin 10 (dsk10)	19	*GNAQ*	9q21	Diminished platelet aggregation	Guanine nucleotide binding protein subunit Gaq in situ	GPCR signalling: limits melanocyte proliferation		Unknown
*Gna11*	dark skin 7 (dsk7)	10	*GNA11*	19p13	Unknown	Guanine nucleotide binding protein subunit Ga11 in situ	GPCR signalling: limits melanocyte proliferation		gna11
*Gnpat*	glyceronephosphate O-acyltransferase, allele tm1Just	8	*GNPAT*	1q42.2	type 2 rhizomelic chondrodysplasia punctata (RCDP2)	glyceronephosphate O-acyltransferase in situ	Abnormal RPE morphology, microphthalmia		*gnpat*
*Gpc3*	glypican 3, allele tm1Arge	X	*GPC3*	Xq26.2	Simpson-Golabi-Behmel syndrome type 1	glypican 3 in situ	dominant distal and belly spotting		*gpc3*
*Gpr161*	G protein-coupled receptor 161 vacuolated lens (vl)	1	*GPR161*	1q24.2	Unknown	G protein-coupled receptor 161, G-protein coupled receptor RE2 in situ	Vacuolated lens, occasional belly spot, spine development		Unknown
*Grlf1*	glucocorticoid receptor DNA binding factor 1 (p190 RhoGAP)	7	*GRLF1*	19q13.32	Unknown	glucocorticoid receptor DNA binding factor 1 in situ	RPE hyperplasia, microphthalmia		Unknown
*Hells*	helicase, lymphoid specific	7	*HELLS*	10q23.33	Unknown	helicase, lymphoid specific	Early ageing includes graying by 15d old		*hells*
*Ikbkg*	inhibitor of kappaB kinase gamma	X	*IKBKG*	Xq28	Incontinentia pigmenti	inhibitor of kappaB kinase gamma in situ	IkB kinase. Required for NFkB signalling		ikbkg
*Itgb1*	integrin beta 1, allele tm1Ref	8	*ITGB1*	10p11.22	Unknown	integrin beta 1 (fibronectin receptor beta) in situ	transient patchy hypopigmentation, crest migration defect, fibronectin receptor beta		*itgb1a* *itgb1b* *itgb1b.1* *itgb1b.2*
*Jmjd6*	Jumonji domain containing 6, allele tm1Gbf	11	*JMJD6*	17q25.2	Unknown	Jumonji domain containing 6	Lack of one/both eyes, ectopic RPE in nose		*jmjd6*
*Kit*	dominant white-spotting (W) (3)	5	*KIT*	4q11-12	Piebaldism	Receptor for SCF in situ in situ	Melanoblast proliferation survival, homing		kita
*Kitl*	steel (Sl)	10	*KITLG*	12q22	Unknown	Stem cell factor (SCF) (Kit ligand) in situ in situ	Melanoblast proliferation survival, homing		kitlga
*Krt1*	dark skin 12 (dsk12)	15	*KRT1*	12q13	epidermolytic hyperkeratosis	keratin 1	Primary action in keratinocytes. Limits melanization		krt1-c5

now available from

Summary of the cloned mouse color genes, human and zebrafish homologues

Development