Color Genes - ESPCR & IFPCS

Current symbol	Murine Locus (pictures)	Mouse Chrom.	KOMP TRAPS	Human Locus	Human Chromosome	Associated Disease	Protein Encoded	Function in Pigmentation / Mutant phenotype	All NCBI Databases	Zebrafish locus
Development
*Acd*	adrenocortical dysplasia	8	KO traps	*ACD*	16q22.1	Unknown	Telomere capping. May affect pigmentation through excess ACTH	Hyperpigmented skin, adrenal hyperplasia, other organ disorders		acd
*Adam17*	a disintegrin and metalloproteinase domain 17, Adam17	12	KO traps	*ADAM17*	2p25	Unknown	a disintegrin and metalloproteinase domain 17, Protease, processing various surface proteins in situ	Irregular pigmentation in hairs		adam17a adam17b
*Adamts20*	belted (bt) (1)	15	KO traps	*ADAMTS20*	12q12	Unknown	A disintegrin and metalloprotease domain (reprolysin type) with thrombospondin type 1 motif, 20 in situ	Metalloprotease. Melanoblast migration? Lumbar white belt		Unknown
*Apc*	Adenomatous polyposis coli, allele tm2Rak	18	KO traps	*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, Wnt pathway mediator; transcription factor in situ	prenatal dorsal dark stripe and head patch		*apc*
*Arcn1*	archain 1, nur17, neurological 17, (pale coat neuro)	9	KO traps	*ARCN1*	11q23.3	Unknown	coatomer protein delta-COP, conserved across diverse eukaryotes in situ	Diluted coat color (and neurological defects, early lethal)		*arcn1*
*Bmpr1a*	Bone morphogenetic protein receptor, type 1A, allele tm1Bh	14	KO traps	*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	KO traps	*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	KO traps	*BRCA1*	17q21	Breast/ovarian cancer	DNA repair; Tumor suppressor in situ	Development of various organs; abnormal skin pigmentation		Unknown
*Cited1*	Cbp/p300-interacting transactivator with Glu/Asp-rich carboxy-terminal domain 1; Melanocyte-specific gene 1 (Msg1)	X	KO traps	*CITED1*	Xq13.1	Unknown	Cbp/p300-interacting transactivator with Glu/Asp-rich carboxy-terminal domain 1 in situ	Involved in pigmentation in an undefined manner, expressed at high levels in the strongly pigmented melanoma cells but at low levels in the weakly pigmented cells, not fully penetrant perinatally/prenatally lethality in mice		Unknown
*Dph1*	DPH1 homolog (S. cerevisiae), Ovca1	11	KO traps	*DPH1*	17p13.3	Unknown	diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae); ovarian cancer-associated gene 1	Delayed embryonic eye pigmentation. Mice homozygous for disruptions in this gene die perinatally or earlier. Numerous systems are affected		dph1
*Dock7*	dedicator of cytokinesis 7; misty (m), moonlight (mnlt)	4	KO traps	*DOCK7*	1p31.3	Unknown	Dedicator of cytokinesis protein 7, widely expressed Rho family guanine nucleotide exchange factor in situ	generalized hypopigmentation and localized white-spotting in mice, with a lack of pigment on the belly, tail tip, and paws; but melanocytes in vitro hyperpigmented		*dock7*
*Ece1*	Endothelin converting enzyme 1, allele tm1Reh	4	KO traps	*ECE1*	1p36.12	Unknown	Endothelin converting enzyme 1; endothelin synthesis in situ in situ	No melanocytes in uvea, dorsal skin at birth (perinatal lethal)		Unknown
*Edn3*	endothelin 3, lethal spotting (ls) (1)	2	KO traps	*EDN3*	20q13.2-q13.3	Waardenburg-Shah Syndrome	Melanoblast/neuroblast growth and differentiation factor in situ	White spotting, megacolon and other neural crest defects		edn3a edn3b
*Ednrb*	piebald spotting (s) (2)	14	KO traps	*EDNRB*	13q22	Hirschsprung's disease type 2	endothelin receptor B; Edn3 receptor in situ	White spotting, megacolon and other neural crest defects		ednrb1
*Eed*	embryonic ectoderm development	7	KO traps	*EED*	11q14.2	Unknown	Polycomb-group (PcG) gene, homologous to Drosophila homeotic gene, extra sex combs in situ	Diluted coat (dwarfism etc)		*eed*
*Egfr*	Epidermal growth factor receptor, dark skin 5 (dsk5)	11	KO traps	*EGFR*	7p12.3	Unknown	epidermal growth factor receptor in situ	dark skin		egfr
*En1*	Engrailed 1	1	KO traps	*EN1*	2q14.2	Unknown	Homeobox protein engrailed-1; transcription factor in situ	Hyperpigmentation of digits (polydactyly etc)		eng1a eng1b
*Fgfr2*	Fibroblast growth factor receptor 2, Fgfr2	7	KO traps	*FGFR2*	10q26	Crouzon syndrome Apert syndrome Pfeiffer syndrome	Fibroblast growth factor receptor 2 in situ	Lighter skin (many other defects)		fgfr2
*Fkbp8*	FK506 binding protein 8, allele tm1Tili	8	KO traps	*FKBP8*	19p13.11	Unknown	Endogenous calcineurin inhibitor; can inhibit apoptosis in situ	Microphthalmia/ anophthalmia		*fkbp8*
*Foxd3*	forkhead box D3, CWH3, Genesis, Hfh2	4	KO traps	*FOXD3*	1p31.3	Vitiligo-associated multiple autoimmune disease associated 2, Susceptibility to autoimmune disease 1	forkhead box protein D3; transcription factor in situ	Mutant mice are embryonic lethal. Essential for neural crest cells and melanoblasts formation		*foxd3*
*Foxn1*	forkhead box N1, allele tw (traveling wave)	11	KO traps	*FOXN1*	17q11.2	Unknown	forkhead box protein N1; transcription factor 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	KO traps	*FREM2*	13q13.3	Fraser syndrome	Extracellular protein. Possibly epithelial- mesenchymal interactions at basement membrane in situ in situ	Microphthalmia/ anophthalmia, patches of discolored or white fur		frem2a frem2b
*Fzd4*	frizzled homolog 4 (Drosophila), allele tm1Nat	7	KO traps	*FZD4*	11q14.2	Exudative vitreoretinopathy 1	7-transmembrane domain protein that is receptor for Wnt signaling proteins, putatively for Wnt5a and/or Ndp in situ in situ	Many abnormalities including light or silvered coat		fzd4
*Gas1*	growth arrest specific 1, allele tm1Fan	13	KO traps	*GAS1*	9q21.33	Holoprosencephaly	Can enhance hedgehog signaling, inhibit growth in situ in situ in situ in situ	RPE transdifferentiates to neural retina		gas1a gas1b
*Gata3*	GATA binding protein 3, allele tm3Gsv	2	KO traps	*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*
*Gli3*	GLI-Kruppel family member GLI3	13	KO traps	*GLI3*	7p14.1	Pallister-Hall syndrome, Greig Cephalopolysybdactyly syndrome and others	Signaling in Hedgehog pathway. Modifies SOX10 expression in situ	White belly patch or lumbar belt; nervous system defects (homo- zygous postnatal lethal)		*gli3*
*Gnaq*	dark skin 1 (dsk1) dark skin 10 (dsk10)	19	KO traps	*GNAQ*	9q21	Diminished platelet aggregation	Guanine nucleotide binding protein subunit Gaq; Signal transduction possibly from an EDNR(s) to PLC in situ	GPCR signalling: limits melanocyte proliferation / Dark skin (hyperproliferation of melanocytes)		*gnaq*
*Gna11*	dark skin 7 (dsk7)	10	KO traps	*GNA11*	19p13	Unknown	Guanine nucleotide binding protein subunit Ga11 in situ	GPCR signalling: limits melanocyte proliferation / Dark skin (hyperproliferation of melanocytes)		gna11
*Gnpat*	glyceronephosphate O-acyltransferase, allele tm1Just	8	KO traps	*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	KO traps	*GPC3*	Xq26.2	Simpson-Golabi-Behmel syndrome type 1	glypican 3; GPI-linked extracellular membrane protein. Putative SHH-binding (competitive with PTCH) in situ	dominant distal and belly spotting		*gpc3*
*Gpr161*	G protein-coupled receptor 161 vacuolated lens (vl)	1	KO traps	*GPR161*	1q24.2	Unknown	Signal transduction; G protein-coupled receptor 161, G-protein coupled receptor RE2 in situ	Vacuolated lens, occasional belly spot, spine development		*gpr161*
*Grlf1*	glucocorticoid receptor DNA binding factor 1 (p190 RhoGAP)	7	KO traps	*GRLF1*	19q13.32	Unknown	glucocorticoid receptor DNA binding factor 1; Transcriptional repressor in situ	RPE hyperplasia, microphthalmia		Unknown
*Hells*	helicase, lymphoid specific	7	KO traps	*HELLS*	10q23.33	Unknown	DNA methylation, gene silencing	Early ageing includes graying by 15d old; p16 overexpression		*hells*
*Ihh*	Indian hedgehog	1	KO traps	*IHH*	2q35	acrocapitofemoral dysplasia type A1 brachydactyly	A member of the 'hedgehog' gene family, primarily regulates chondorcyte differentiation in situ	Ihh is required for the normal pigmentation pattern of the RPE, skeletal defects, limb dwarfism, mutant mice die perinataly		*ihha* *ihhb*
*Itgb1*	integrin beta 1, allele tm1Ref	8	KO traps	*ITGB1*	10p11.22	Unknown	integrin beta 1 (fibronectin receptor beta); cell attachment, migration in situ	transient patchy hypopigmentation, crest migration defect		*itgb1a* *itgb1b* *itgb1b.1* *itgb1b.2*
*Jmjd6*	Jumonji domain containing 6, allele tm1Gbf	11	KO traps	*JMJD6*	17q25.2	Unknown	Demethylates histones. Transcriptional regulator	Lack of one/both eyes, ectopic RPE in nose		*jmjd6*
*Kit*	Kit oncogene, dominant white-spotting (W) (4)	5	KO traps	*KIT*	4q11-12	Piebaldism	Receptor for Kit ligand/SCF; required for melanoblast survival, homing in situ in situ	White spotting, anemia and germ-cell deficiency		kita
*Kitl*	steel (Sl)	10	KO traps	*KITLG*	12q22	Unknown	Stem cell factor (SCF) (Kit ligand); melanoblast growth and differentiation factor in situ in situ	White spotting, anemia and germ-cell deficiency		kitlga
*Krt1*	keratin 1, dark skin 12 (dsk12)	15	KO traps	*KRT1*	12q13	epidermolytic hyperkeratosis	cytoskeleton	dark skin, Primary action in keratinocytes. Limits melanization		krt1-c5 krt1-19d krt1-11b
*Krt17*	keratin 17, allele tm1Cou	11	KO traps	*KRT17*	17q21.2	Pachyonychia congenita type 2 (Jackson-Lawler type). Steatocystoma multiplex	cytoskeleton	dark skin, abnormal hairs with clustered melanin granules		*zgc:92061*
*Krt2*	keratin 2-17, dark skin 2 (dsk2)	15	KO traps	*KRT2A*	12q11-q13	Ichthyosis bullosa of Siemens	cytoskeleton; keratin complex 2, basic, gene 17 in situ	dark skin		Unknown
*Krt4*	keratin 4	15	KO traps	*KRT4*	12q13.13	White Sponge Nevus of Cannon	cytoskeleton	“bright” diluted coat color		*krt4*
*Krt75*	keratin 75, allele tm1Der	15	KO traps	*KRT75*	12q13.13	Unknown	cytoskeleton in situ	hair defects with variable pigment clumping		Unknown
*Lef1*	lymphoid enhancer binding factor 1, allele tm1Rug	3	KO traps	*LEF1*	4q25	Sebaceous adenomas	transcription factor, Wnt/b-catenin mediator, Mutations result in impaired binding to beta-catenin in situ	underdeveloped hair follicles lacking melanin		*lef1*
*Lmx1a*	LIM homeobox transcription factor 1 alpha, dreher (dr)	1	KO traps	*LMX1A*	1q22-23	Unknown	LIM homeodomain protein 1, transcription factor	Partial or complete white belt and/or belly spot		lmx1a
*Mab21l2*	Mab-21-like 2 (C. elegans), allele tm1Nao	3	KO traps	*MAB21L2*	4q31.3	Unknown	Cell fate determination, TGFβ signaling in situ	lack of RPE by time of embryonic lethality		*mab21l2*
*Map2k1*	MAP kinase kinase 1, Mek1, Prkmk1	9	KO traps	*MAP2K1*	15q22.31	Unknown	mitogen-activated protein kinase kinase 1 in situ in situ	activated Map2k1 induces transdifferentiation of RPE cells to neural retina by inhibiting Mitf		*map2k1*
*Mbtps1*	membrane-bound transcription factor peptidase, site 1, allele wrt	8	KO traps	*MBTPS1*	16q23.3-q24.1	Unknown	Peptidase involved in regulation of membrane lipid composition in situ	Diluted hair with white base (melanocyte death?)		*mbtps1*
*Mcoln3*	mucolipin 3, varitint-waddler (Va)	3	KO traps	*MCOLN3*	1p22.3	Unknown	Cation channel, ion homeostasis? in situ	Patches of normal, diluted and white hair (and behavioral defects)		mcoln3
*Med1*	mediator complex subunit 1, (Peroxisome proliferator-activated receptor-binding protein, Pparbp)	11	KO traps	*MED1*	17q12	Unknown	Binds methylated DNA. DNA repair. Mediator of RNA polymerase II transcription subunit 1, (Thyroid hormone receptor- associated protein complex 220 kDa component, Trap220) in situ	Low retinal pigmentation (before embryonic lethality)		med1
*Mitf*	microphthalmia (mi) (27)	6	KO traps	*MITF*	3p12-14	Waardenburg syndrome type 2	transcription factor, master regulator of melanocyte lineage	melanocyte differentiation, White spotting and small or absent eyes		mitfa mitfb
*Mpzl3*	myelin protein zero-like 3 (allele rough coat, rc)	9	KO traps	*MPZL3*	11q23.3	Unknown	Putative adhesion protein, expressed in keratinocytes	Hair follicle loss, black pigment changes to light brown		*mpzl3*
*Myc*	myelocytomatosis oncogene (when KO targeted by Wnt1 promoter-Cre)	15	KO traps	*MYC*	8q24.21	Unknown	Myc proto-oncogene protein (c-myc), Transcription factor, regulator of cell proliferation in situ in situ	Pigmentary spotting, not head		*myca* *mycb*
*Ndp*	Norrie disease homolog (allele tm1Wbrg)	X	KO traps	*NDP*	Xp11.4	Norrie disease pseudoglioma	Norrin, TGFβ-like extracellular factor. FZD4 and LRP5 also associated with human Norrie disease in situ	Many defects including hyperpigmentation of RPE and overgrowth of strial melanocytes		*ndp*
*Nf1*	neurofibromatosis 1	11	KO traps	*NF1*	17q11.2	Neurofibromatosis type 1	RAS GTPase-activating protein Neurofibromin 1 in situ	Small, unpigmented eyes – microphthalmia (Ras pathway)		*nf1*
*Notch1*	Notch gene homolog 1 (Drosophila)	2	KO traps	*NOTCH1*	9q34.3	Unknown	Receptor for ligands in Delta and Jagged families in situ in situ in situ	Scattered grey hairs, when KO targetted to melanocytes (Tyr-Cre)		*notch1a* *notch1b*
*Notch2*	Notch gene homolog 2 (Drosophila)	3	KO traps	*NOTCH2*	1p12	Alagille Syndrome 2	Receptor for ligands in Delta and Jagged families in situ	Scattered grey hairs, when KO targetted to melanocytes (Tyr-Cre). All grey with Notch1 KO, eventually white		*notch2*
*Nr2e1*	nuclear receptor subfamily 2, group E, member 1 (allele fierce, frc)	10	KO traps	*NR2E1*	6q21	Unknown	Transcriptional repressor, recruits HDAC to DNA, stem cell maintenance in situ in situ in situ	Brain and eye defects. Asymmetrical and mottled RPE		*nr2e1*
*Ntrk1*	neurotrophic tyrosine kinase, receptor, type 1 (TrkA)	3	KO traps	*NTRK1*	1q23.1	Insensitivity to pain, congenital, with anhidrosis (CIPA)	Co-receptor for nerve growth factor in situ	Mottled coat (also neural defects, skin lesions)		*ntrk1*
*Otx2*	orthodenticle homolog 2 (Drosophila)	14	KO traps	*OTX2*	14q23.1	Dysgnathia complex	Hox-like transcription factor, can induce RPE identity in neural retina in situ in situ in situ in situ in situ in situ in situ in situ	Many effects including RPE hyperplasia		*otx2*
*Pax2*	paired box gene 2	19	KO traps	*PAX2*	10q24.31	Unknown	PAX-2 transcription factor in situ	Many effects including RPE cells extending into optic nerve		*pax2a* *pax2b*
*Pax3*	splotch (Sp)	1	KO traps	*PAX3*	2q35	Waardenburg syndrome type 1 WS type 3	PAX-3 transcription factor in situ in situ	neural tube development		pax3
*Pax6*	paired box gene 6 (small eye, Sey)	2	KO traps	*PAX6*	11p13	Aniridia Other eye disorders	PAX-6 transcription factor in situ in situ in situ in situ	Eye abnormalities can include reduced RPE, also distal/ventral white spotting		*pax6a* *pax6b*
*Pcbd1*	pterin 4 alpha carbinolamine dehydratase/ dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 1	10	KO traps	*PCBD1*	10q22.1	Hyperphenylalaninemia with primapterinuria	Both phenylalanine metabolism and binding partner of TCF1 (HNF1), hence WNT pathway interaction in situ	Mild hypopigmentation, belly spot, mild microphthalmia		*pcbd1*
*Pdgfb*	platelet derived growth factor, B polypeptide	15	KO traps	*PDGFB*	22q13.1	Meningioma	platelet derived growth factor, B polypeptide in situ	Cardiovascular and eye defects include abnormal RPE, microphthalmia		*pdgfb*
*Pdgfc*	platelet derived growth factor, C polypeptide	3	KO traps	*PDGFC*	4q32.1	Unknown	platelet derived growth factor, C polypeptide in situ	Depigmented spots in the retina		*pdgfc*
*Phactr4*	phosphatase and actin regulator 4, allele humpty dumpty	4	KO traps	*PHACTR4*	1p35.3	Unknown	Regulator of protein phosphatase 1 and its dephosphorylation of RB1 in situ	Neuroblast overgrowth; outgrowths in RPE		*phactr4*
*Pitx3*	paired-like homeodomain transcription factor 3 (aphakia, ak)	19	KO traps	*PITX3*	10q24.32	Congenital cataract	Transcription factor. CNS neuronal differentiation in situ in situ	Eye abnormalities including hyperpigmentation around embryonic pupil		*pitx3*
*Pygo1*	pygopus 1, homolog (Drosophila)	9	KO traps	*PYGO1*	15q21.3	Unknown	Cofactor for β-catenin- LEF-mediated transcription in situ	eye and other defects including folded RPE		pygo1
*Rb1*	Retinoblastoma 1 (targeted)	14	KO traps	*RB1*	13q14.2	Retinoblastoma 1	Growth-inhibitor, suppresses E2F transactivation activity in situ	melanocyte over-proliferation in culture		*rb1*
*Recql4*	RecQ protein-like 4	15	KO traps	*RECQL4*	8q24.3	Rothmund-Thomson syndrome (RTS)	DNA helicase that unwinds double-stranded DNA into single-stranded DNAs in situ	Mutant mice show growth retardation and skin abnormlaities, including patches of colorless hair; premature graying of fur		*recql4*
*Rs1*	retinoschisis (X-linked, juvenile) 1 (human), allele tmgc1	X	KO traps	*RS1*	Xp22.13	retinoschisis (X-linked, juvenile) 1	Retinal protein; homologies to cell-adhesion proteins in situ	small patches of depigmentation in RPE		*rs1*
*S1pr2*	sphingosine-1-phosphate receptor 2 (Edg5), allele tm1Rlp	9	KO traps	*S1PR2*	19p13.2	Unknown	sphingosine-1-phosphate receptor 2 in situ	Inner ear abnormalities include thickening & hyper-pigmentation of stria vascularis		*s1pr2*
*Sema3c*	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	5	KO traps	*SEMA3C*	7q21.11	Unknown	Secreted signaling factor, can mediate axon repulsion in situ	Some skin hypopigmentation, ectopic pigment in internal organs		*sema3c*
*Sema4a*	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	3	KO traps	*SEMA4A*	1q22	Retinitis pigmentosa 35	Transmembrane juxtacrine signaling protein in situ	Abnormal RPE, postnatal depigmentation of eye		Unknown
*Sfxn1*	flexed tail (f)	13	KO traps	*SFXN1*	5q35.3	Unknown	Tricarboxylate carrier protein (TCC) Note: there is an alternative identification of f as Smad5 in situ	Belly spot (and flexed tail, anemia etc)		sfxn1
*Snai2*	snail homolog 2 (Drosophila)	16	KO traps	*SNAI2*	8q11	Waardenburg syndrome 2	Transcription factor in situ in situ	Spotting, head blaze, pale hair and skin, neural crest and other organ defects		snai2
*Sox10*	SRY-box containing gene 10, Dominant megacolon (Dom) (2)	15	KO traps	*SOX10*	22q13	Waardenburg-Shah Syndrome	Transcription factor in situ	White spotting, megacolon and other neural crest defects		sox10
*Sufu*	suppressor of fused homolog (Drosophila)	19	KO traps	*SUFU*	10q24.32	medulloblastoma	Cytoplasmic signaling intermediate in situ	CNS, dark hair, basal cell lesions on skin (Hh pathway suppressor)		*sufu*
*Tbx10*	T-box 10 (Dc, dancer)	19	KO traps	*TBX10*	11q13.2	Unknown	T-box 10 transcription factor (ectopic expression in Dc) in situ	Head spot (variable); ear, palate & neural defects		Unknown
*Tbx15*	T-box 15 (de, droopy ear)	3	KO traps	*TBX15*	1p12	Cousin syndrome	T-box 15 transcription factor in situ	Ear shape; skeletal, altered dorsoventral color pattern with A^t, a^e		*tbx15*
*Tcfap2a*	transcription factor AP-2, alpha	13	KO traps	*TFAP2A*	6p24	Unknown	Transcription factor Can regulate kit in situ	Mouse knock-out (Wnt1-targeted) produces neural crest defects including coat color alterations		tfap2a
*Timp3*	tissue inhibitor of metalloproteinase 3	10	KO traps	*TIMP3*	22q12.3	Fundus dystrophy, pseudoinflammatory, of Sorsby	Protease inhibitor and can block VEGF binding to receptor in situ	Abnormal RPE morphology		*timp3*
*Traf6*	Tnf receptor-associated factor 6	2	KO traps	*TRAF6*	11p12	Ectodermal dysplasia, anhidrotic	Signaling from IL1A to NFκB in situ	Many effects including pale skin, few/delayed hair follicles. Postnatal lethal		*traf6*
*Tub*	tubby candidate gene	7	KO traps	*TUB*	11p15.4	Unknown	Anti-apoptotic; downstream mediator of G_q signaling	Obese; eye and ear abnormalities; degeneration and loss of RPE.		*tub*
*Unc119*	unc-119 homolog (C. elegans)	11	KO traps	*UNC119*	17q11.2	Knobloch syndrome type I	proposed receptor- associated activator of SRC-family kinases in situ	Retinal degeneration; mottling of RPE		*unc119-1* *unc119-2*
*Vsx2*	visual system homeobox 2	12	KO traps	*VSX2*	14q24.3	Unknown	Pax-like transcription factor	Microphthalmia, reduced eye pigmentation		*vsx2*
*Wnt1*	wingless-related MMTV integration site 1	15	KO traps	*WNT1*	12q13	Unknown	Growth factor/morphogen in situ	Defects of neural crest including melanoblasts in mice lacking both Wnt1 and Wnt3a		wnt1
*Wnt3a*	wingless-related MMTV integration site 3A	11	KO traps	*WNT3A*	1q42	Unknown	Growth factor/morphogen in situ	Defects of neural crest including melanoblasts in mice lacking both Wnt1 and Wnt3a		wnt3l
*Zbtb17*	zinc finger and BTB domain containing 17	4	KO traps	*ZBTB17*	1p36.13	Unknown	Transcription factor in situ	Darkened coat (mixed strain background); dark skin, dark dermis around hairs, Abnormal follicles		*Zbtb17*
*Zfp53*	zinc finger protein 53	17	KO traps	ZFP53	Unknown	Unknown	Transcription factor? in situ	Abnormal skin pigmentation		Unknown
Zic2	Transcription factor, Kumba (Ku)	14	KO traps	*ZIC2*	13q32	Holoprosencephaly 5	Transcription factor in situ	neural crest formation and hindbrain patterning belly spot, curly tail		zic2a zic2b
Components of melanosomes and their precursors
*Dct*	tyrosinase related protein 2 (TRP2), slaty (slt) (4)	14	KO traps	*DCT*	13q31-q32	Unknown	DOPAchrome tautomerase, melanosomal enzyme in situ	Dilution of eumelanin color		*dct*
*Gpnmb*	iris pigment dispersion (ipd)	6	KO traps	*GPNMB*	7q	pigment-dispersion syndrome (GPDS1)?	Glycoprotein (transmembrane), apparent melanosomal component in situ	Glaucoma, iris pigment epithelium disorders, especially with Tyrp1^b/b		Unknown
*Pmel*	gp100/gp87/silver protein, Pmel17, silver (si) (1)	10	KO traps	*PMEL*	12q13-q14	Unknown	premelanosome protein, melanosomal matrix protein, trapping of melanin intermediates? in situ	Silvering with postnatal melanocyte loss in eumelanic animals (varying with strain background) in Pmel^si. Mild effect on visible pigmentation, substantial reduction in eumelanin content in hair and spherical melanosomes in Pmel^tm1Sson publication		*silva* silvb
*Slc24a5*	solute carrier family 24, member 5 (NCKX5)	2	KO traps	*SLC24A5*	15q21.1	Unknown	Calcium transporter, melanosomal? in situ	Skin, eye color		*slc24a5*
*Slc45a2*	underwhite (uw) Matp	15	KO traps	*SLC45A2*	5p	oculocutaneous albinism type 4 (OCA4)	Solute transporter, Membrane-associated transporter protein (Matp) in situ	Severe dilution of coat and eye pigment		slc45a2
*Tyr*	tyrosinase, albino, color (c) (24)	7	KO traps	*TYR*	11q21	oculocutaneous albinism type 1 (OCA1)	melanogenic enzyme	No pigment in null mice (multiple allelic variants)		tyr
*Tyrp1*	tyrosinase related protein 1 (TRP1), brown (b) (3)	4	KO traps	*TYRP1*	9p23	oculocutaneous albinism type 3 (OCA3) Rufous albinism	melanosomal enzyme/stabilizing factor in situ	Brown eumelanin. Allele isa can contribute to glaucoma		tyrp1a tyrp1b
Melanosome construction / protein routing (HPS-related)
*Ap3b1*	pearl (pe)	13	KO traps	*AP3B1*	5q14.1	Hermansky Pudlak syndrome type 2 HPS - General	beta-3 subunit of adaptor protein 3 complex (AP-3) in situ	Organellar protein routing		ap3b1
*Ap3d1*	mocha (mh)	10	KO traps	*AP3D1*	19p13.3	Unknown	delta subunit of adaptor protein 3 complex (AP-3) in situ	Organellar protein routing		ap3d1
*Bloc1s3*	Reduced pigmentation (rp)	7	KO traps	*BLOC1S3*	19q13.32	Hermansky Pudlak syndrome type 8	Unknown in situ	a component of the BLOC1 protein transport complex		Unknown
Cno	cappuccino (cno)	5	KO traps	*CNO*	4p16-p15	Unknown	Unknown in situ	Organelle biogenesis		cno
*Dtnbp1*	sandy (sdy)	13	KO traps	*DTNBP1*	6p22.3	Hermansky Pudlak syndrome type 7 HPS - General	dysbindin in situ	lysosome-related organelles complex 1 (BLOC-1)		dtnbp1a dtnbp1b
*Fig4*	pale tremor (plt) (1)	10	KO traps	*FIG4*	6q21	Charcot-Marie-Tooth (CMT) disease type 4J	Phosphatidylinsositol-(3,5)-bisphosphate 5-phosphatase	late endosome-lysosome axis, Pale skin neonatally, few hair follicles, clumped melanosomes (and immune effects etc)		Unknown
*Gpr143*	Oa1 (oa1)	X	KO traps	*GPR143*	Xp22.3	ocular albinism type 1	G-protein-coupled receptor (GPR143) in situ	Melanosome Biogenesis signal transduction		gpr143
*Hps1*	pale ear (ep)	19	KO traps	*HPS1*	10q23	Hermansky Pudlak syndrome type 1 HPS - General	membrane protein in situ	Organelle biogenesis and size		*hps1*
*Hps3*	cocoa (coa)	3	KO traps	*HPS3*	3q24	Hermansky Pudlak Syndrome type 3 HPS - general	Unknown	Organelle biogenesis		hps3
*Hps4*	light ear (le)	5	KO traps	*HPS4*	22q11.2-q12.2	Hermansky Pudlak Syndrome type 4 HPS - General	Unknown in situ	Organelle biogenesis and size		hps4
*Hps5*	Ruby-eye 2 (ru2)	7	KO traps	*HPS5*	11p15-p13	Hermansky Pudlak syndrome type 5 HPS - General	Unknown	biogenesis of lysosome-related organelles complex-2		Unknown
*Hps6*	Ruby-eye (ru)	19	KO traps	*HPS6*	10q24.31	Hermansky Pudlak syndrome type 6 HPS - General	Unknown in situ	biogenesis of lysosome-related organelles complex-2		hps6
*Lyst*	beige (bg)	13	KO traps	*LYST*	1q42	Chediak Higashi syndrome	membrane protein in situ	Organelle biogenesis and size		lyst
*Muted*	muted (mu), Txndc5	13	KO traps	*MUTED*	6p24.3-25.1	Unknown	BLOC-1 subunit, TXNDC5 in situ	Organelle biogenesis		txndc5
*Oca2*	pinkeyed-dilution (p) (6)	7	KO traps	*OCA2*	15q11.2-q12	oculocutaneous albinism type 2 (OCA2)	Unknown in situ	Melanosome biogenesis and size		oca2
*Pldn*	pallid (pa)	2	KO traps	*PLDN*	15q15	Hermansky-Pudlak syndrome-9	pallidin, BLOC-1, BLOC-1 subunit in situ	vesicle-docking and fusion		pldn
*Rab38*	chocolate (cht) (1)	7	KO traps	*RAB38*	11q14	Unknown	Member of RAS oncogene family in situ	Targeting of Tyrp1 protein to the melanosome		rab38a rab38b
*Rabggta*	gunmetal (gm)	14	KO traps	*RABGGTA*	14q11.2	Unknown	alpha-subunit of rab geranylgeranyl transferase in situ	Organelle biogenesis		rabggta
*Shroom2*	shroom family member 2; Apxl, Shrm2	X	KO traps	*SHROOM2*	Xp22.2	Distinct form of ocular albinism type 1	amiloride-sensitive sodium channel activity in situ	regulates melanosome biogenesis and localization in the RPE		Unknown
*Trappc6a*	trafficking protein particle complex 6A	7	KO traps	*TRAPPC6A*	19q13.32	Unknown	trafficking protein particle complex 6A in situ	Pale patches in the coat and RPE		Unknown
*Vps33a*	buff (bf)	5	KO traps	*VPS33A*	12q24.31	Unknown	vacuolar protein sorting 33a in situ	Organellar protein routing		vps33a
Melanosome transport
*Mlph*	leaden (ln)	1	KO traps	*MLPH*	2q37	Griscelli syndrome (?)	melanophilin in situ	melanosome transport		mlpha mlphb
*Mreg*	dilute suppressor (dsu)	1	KO traps	*MREG*	2q35	Unknown	whn-dependent transcript 2 (Wdt2) Melanoregulin in situ	Melanosome transport		Unknown
*Myo5a*	dilute (d)	9	KO traps	*MYO5A*	15q21	Griscelli syndrome	myosin type Va in situ	melanosome transport		myo5a
*Myo7a*	shaker-1 (sh-1)	7	KO traps	*MYO7A*	11q13.5	Usher syndrome type IB	Myosin type VIIa in situ	Melanosome transport in RPE		myo7a
*Rab27a*	ashen (ash)	9	KO traps	*RAB27A*	15q21	Griscelli syndrome	RAS associated protein in situ	melanosome transport		rab27a
Eumelanin and Pheomelanin
a	nonagouti (a) (9)	2	KO traps	*ASIP*	20q11.2	hair color/skin type	agouti signal protein (ASIP) in situ	Eumelanin / pheomelanin switch		asip asip2
*Atrn*	mahogany (mg)	2	KO traps	*ATRN*	20p13	Unknown	Attractin in situ	Eumelanin / pheomelanin switch (among others)		atrn
*Drd2*	Dopamine receptor 2, allele tm1mok	9	KO traps	*DRD2*	11q23.1-23.2	Unknown	Dopamine receptor 2 in situ in situ in situ in situ in situ in situ in situ	Agouti color darkened. POMC level raised		*drd2a* *drd2b*
*Eda*	Tabby (Ta)	X	KO traps	*ED1*	Xq12-q13	Ectodermal dysplasia type 1	ectodysplasin-A in situ	Sweat gland, tooth and hair morphogenesis		eda
*Edar*	ectodysplasin-A receptor	10	KO traps	*EDAR*	2q12.3	autosomal recessive hypohidrotic ectodermal dysplasia	ectodysplasin-A receptor in situ	hyperpigmentation, hair morphogenesis		*edar*
*Edaradd*	Ectodysplasin A receptor-associated death domain (cr, crinkled)	13	KO traps	*EDARADD*	1q43	autosomal recessive hypohidrotic ectodermal dysplasia	Delayed hair growth, agouti coat darker dorsally, yellower laterally in situ	Ectodysplasin A receptor-associated death domain		*edaradd*
*Ggt1*	gamma-glutamyltransferase 1, dwarf grey (dwg)	10	KO traps	*GGT1*	22q11.23	glutathionuria	gamma-glutamyltransferase 1; glutathion homeostasis (pheomelanin synthesis) in situ	premature greying, many abnormalities including impaired growth, skeletal abnormalities, cataracts, lethargic behavior, sterility, and shortened life span		*ggt1*
*L1cam*	Neural cell adhesion molecule L1, allele tm1Sor	X	KO traps	*L1CAM*	Xq28	X-linked hydrocephalus, MASA/Crash syndrome	Neural cell adhesion molecule L1 in situ in situ	black fur patches on agouti		*nadl1.1* *nadl1.2*
*Mc1r*	extension (e)	8	KO traps	*MC1R*	16q24.3	hair color/skin type	Melanocortin 1 receptor in situ	Eumelanin / pheomelanin switch		*mc1r*
*Mchr1*	melanin-concentrating hormone receptor 1	15	KO traps	*MCHR1*	22q13.2	Unknown	melanin-concentrating hormone receptor 1	In fish, involved in melanosome aggregation and, hence, depigmentation in response to environmental changes. In mammals regulates feeding behavior.		*mchr1a* *mchr1b*
*Mgrn1*	mahogunin, ring finger 1, Mahoganoid (md)	16	KO traps	*MGRN1*	16p13.3	Unknown	Mahogounin, ring finger 1 E3 ubiquitin ligase? in situ	Melanin color Spongiform Degeneration		mgrn1
*Ostm1*	grey-lethal (Gl)	10	KO traps	*OSTM1*	6q21	autosomal recessive osteopetrosis	Unknown in situ	Pheomelanin and osteoclast function		ostm1
*Pmch*	pro-melanin-concentrating hormone; Mch, melanin-concentrating hormone	10	KO traps	*PMCH*	12q23.2	Unknown	Precursor of the melanin-concentrating hormone in situ	In fish, involved in melanosome aggregation and, hence, depigmentation in response to environmental changes. Mutant mice show reduced food intake and increased oxygen consumption		*pmch*
*Pomc*	Pomc1	12	KO traps	*POMC*	2p23.3	Red Hair	Proopiomelanocortin, including Melanocyte Stimulating Hormone (MSH) in situ	Eumelanin / pheomelanin switch (and endocrine functions)		pomca pomcb
*Slc7a11*	subtle gray (sut)	3	KO traps	*SLC7A11*	4	Unknown	solute carrier family 7 (cationic amino acid transporter, y+ system), member 11 in situ	Cystine transporter needed for pheomelanin synthesis		Unknown
*Smarca5*	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5, allele MommeD4	8	KO traps	*SMARCA5*	4q31.21	Unknown	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 in situ	Dominant mottled coat with A^y/-		*smarca5*
*Smchd1*	structural maintenance of chromosomes (SMC) flexible hinge domain containing 1, (MommeD1)	17	KO traps	*SMCHD1*	18p11.32	Unknown	Modifies imprinting, X-inactivation in situ	Affects percentage of female yellow pups on A^vy background.		*smchd1*
*Sox18*	ragged (rg) dark coat color 1 (Dcc1)	2	KO traps	*SOX18*	20q13.33	Unknown	SRY-box containing gene 18 in situ	transcription factor		sox18
*Sox2*	SRY-box containing gene 2 (ysb, yellow submarine)	3	KO traps	*SOX2*	3q26.33	Microphthalmia, anophthalmia, neural and pituitary defects	Transcription factor Sox2 in situ	Yellow hair, neural, deafness Sox2 regulates Notch1 in eye		sox2
Systemic effects
*Atox1*	Antioxidant protein 1 homolog 1 (yeast)	11	KO traps	*ATOX1*	5q32	Unknown	Copper transport protein ATOX1 in situ	copper transport (hypopigmentation)		Unknown
*Atp7a*	mottled (mo)	X	KO traps	*ATP7A*	Xq12-q13	Menkes disease	ATPase, Cu(2+)-Transporting alpha polypeptide in situ	copper transport		atp7a
*Atp7b*	toxic milk (tx)	8	KO traps	*ATP7B*	13q14.3-q21.1	Wilson disease	copper-transporting P-type ATPases in situ	copper transport		atp7b
*Bcl2*	B-cell leukemia/lymphoma 2	1	KO traps	*BCL2*	18q21.3	follicular lymphomas	Inhibitor of apoptosis in situ	Mutant mice show hair graying		bcl2
*Casp3*	Caspase 3, allele tm1Flv	8	KO traps	*CASP3*	4q35.1	Unknown	Caspase 3, apoptosis related cystein protease in situ in situ in situ	Abnormal RPE (molecular function in apoptosis)		*casp3a* *casp3b*
*Dst*	Dystonin (dt, ah), allele dt-J; (dystonia musculorum; athetoid)	1	KO traps	*DST*	6p12.1	Unknown	Dystonin in situ	Pale skin		*dst*
*Elovl3*	Elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3, allele tm1Jaco	19	KO traps	*ELOVL3*	10q24.32	Unknown	Elongation of very long chain fatty acids protein 3 in situ	Abnormal hairs with scattered hyperpigmentation		Unknown
*Elovl4*	Elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4, allele tm1Jaco	9	KO traps	*ELOVL4*	6q14.1	Stargardt Disease 3	Elongation of very long chain fatty acids protein 4	Abnormal retinae including RPE, macular distrophy with flecks		*elovl4*
*Ercc2*	Ercc2	7	KO traps	*ERCC2*	19q13	xeroderma pigmentosum group D	excision repair cross-complementing rodent repair deficiency, complementation group 2 in situ	Nucleotide excision repair (NER)		ercc2
*Fas*	Fas (TNF receptor superfamily member 6)	19	KO traps	*FAS*	10q23.31	Unknown	Fas (TNF receptor superfamily member 6) in situ	Fewer strial melanocytes on certain background		*fas*
*Heph*	hephaestin; sex-linked anemia (sla)	X	KO traps	*HEPH*	Xq12	Unknown	hephaestin in situ	abnormal pigment location in RPE		*hephl1*
*Hs2st1*	heparan sulfate 2-O-sulfotransferase 1	3	KO traps	*HS2ST1*	1p22.3	Unknown	heparan sulfate 2-O-sulfotransferase 1	abnormal RPE differentiation		*hs2st1*
*Oat*	ornithine aminotransferase	7	KO traps	*OAT*	10q26.13	Ornithine aminotransferase deficiency, Gyrate atrophy	ornithine aminotransferase in situ	Abnormal RPE cell morphology		Unknown
*Pah*	phenylalanine hydroxylase	10	KO traps	*PAH*	12q23.2	Phenylketonuria	phenylalanine hydroxylase in situ	Effects include hypopigmentation, worsening		*pah*
*Pdpk1*	3-phosphoinositide dependent protein kinase-1, allele tm1Bcol	17	KO traps	*PDPK1*	16p13.3	Unknown	3-phosphoinositide dependent protein kinase-1 in situ	Abnormal eye pigmentation		pdpk1a pdpk1b
*Polg*	polymerase (DNA directed), gamma	7	KO traps	*POLG*	15q26.1	Alpers syndrome	polymerase (DNA directed), gamma	General premature ageing including coat graying		*polg*
*Polh*	polymerase (DNA directed), eta (RAD 30 related)	17	KO traps	*POLH*	6p21.1	Xeroderma pigmentosum, variant type V (XPV)	polymerase (DNA directed), eta (RAD 30 related) in situ	Pigment (melanocyte?) accumulation in ear skin following UV		Unknown
*Pts*	6-pyruvoyl-tetrahydropterin synthase	9	KO traps	*PTS*	11q23.1	BH4-deficient hyperphenylalaninemia	6-pyruvoyl-tetrahydropterin synthase in situ	Coat dilution (low biopterin, high Phenylalanine)		*pts*
*Rbp1*	retinol binding protein 1, cellular	9	KO traps	*RBP1*	3q23	Unknown	retinol binding protein 1, cellular in situ	abnormal RPE morphology		*rbp1a* *rbp1b*
*Rbpj*	recombination signal binding protein for immunoglobulin kappa J region (RBP-J)(Tyr targeted KO)	5	KO traps	*RBPSUH*	4p15.2	Unknown	recombination signal binding protein for immunoglobulin kappa J region	Hair depigmentation, other melanocytes not affected		*rbpja* *rbpjb*
*Rpl24*	belly spot and tail (Bst)	16	KO traps	*RPL24*	3q12.3	Unknown	Ribosomal protein L24, Function presumably in protein synthesis in situ	Eye, coat, skeletal		*rpl24*
*Rps19*	Ribosomal protein S19, Dark skin 3 (Dsk3)	7	KO traps	*RPS19*	19q13.2	Diamond-Blackfan anemia (DBA)	Ribosomal protein S19, mutation results in p53 stabilization and Kitl expression in keratinocytes in situ	In mice, dark skin in ears, footpads and tails, increased number of melanocytes in the epidermis		*rps19*
*Rps20*	Ribosomal protein S20, Dark skin 4 (Dsk4)	4	KO traps	*RPS20*	8q12.1	Unknown	Ribosomal protein S20, mutation results in p53 stabilization and Kitl expression in keratinocytes in situ	In mice, dark skin in ears, footpads and tails, increased number of melanocytes in the epidermis		*rps20*
*Rxra*	retinoid X receptor alpha	2	KO traps	*RXRA*	9q34.2	Unknown	retinoid X receptor alpha in situ in situ	Premature hair graying then hair loss		*rxraa* *rxrab*
*Slc31a1*	solute carrier family 31, member 1	4	KO traps	*SLC31A1*	9q32	Unknown	solute carrier family 31, member 1 in situ	Copper deficiency, hypopigmentation		*slc31a1*
*Trpm7*	transient receptor potential cation channel, subfamily M, member 7 [touchtone(tct) and nutria in zebrafish]	2	KO traps	*TRPM7*	15q21.2	Amyotrophic lateral sclerosis -parkinsonism/dementia complex of Guam, Guam disease	Transient receptor potential melastatin 7, broadly expressed, non-selective cation channel. In zebrafish, embryonic melanophores require Trpm7 to promote survival and to detoxify intermediates of melanin synthesis in situ	In zebrafish, pale color, mutant embryonic melanophores die, but regeneration melanophores and adult melanophores are OK, unable to overcome redox stress associated to melanin synthesis, skeleton and kidney defects, in mice, null allele is embryonic lethal		*trpm7* (1)
*Vldlr*	very low density lipoprotein receptor	19	KO traps	*VLDLR*	9p24.2	Cerebellar hypoplasia and mental retardation	very low density lipoprotein receptor in situ in situ	Thickening and disruption of RPE		*vldlr*

Current symbol	Murine Locus	Mouse Chrom.	Human Locus (OMIM Links)	Human Chromosome	Associated Disease (OMIM Links)	Protein Encoded	Function/Effect in Pigmentation	All NCBI Databases
Development
*Alm*	anterior lenticonus with microphthalmia (Alm)	?	?	?	?	?	Eye, coat others
ao	Apampischo	?	?	?	?	?	Hair loss then regrowth of darker, sparser hair
*baln2*	balance 2 (baln2)	?	?	?	?	?	Eye, coat, skeletal
*baw*	Black and white	18	?	?	?	?	White ventrum, scattered white hairs dorsally
*Bswt*	belly spot with white toes (Bswt)	1	?	?	?	?	belly spot with white hind toes
*bt2*	belted 2 (bt2)	?	?	?	?	?	White belt
*Crm*	cream	X	?	?	?	?	Males and homozygous females show a pale yellow tinge, while heterozygous females show yellow patches. Yellow coat color present in albino genetic background, thus probably not related to melanocytes
*crsp*	cryptorchidism with white spotting (crsp)	5	?	?	?	?	Coat and skin pigment, male reproductive system
cw	Curly whiskers	9	?	?	?	?	CBA mice go darker (some lymphoma)
*dds*	dorsal dark stripe (dds)	15	?	?	?	?	Dorsal pigment dorsal dark stripe
*dkd*	darkened dorsal	2	?	?	?	?	Dorsal pigment, dorsal dark stripe
*Dwh*	Dispersed white hair	2	?	?	?	?	White hairs and patches throughout coat
*Ednrbm1*	endothelin receptor type B modifier 1 (QTL)	10	?	?	?	?	Modifies extent of spotting with Ednrb^s
*Exma*	exencephaly and severe microphthalmia/anophthalmia	X	?	?	?	?	Patchy coat pigmentation, microphthalmia
fc	flecking (fc)	2	?	?	?	?	Head and belly spot
Fk	Fleck (Fk)	?	?	?	?	?	White on belly, tail and feet
*gand*	gandalf	?	?	?	?	?	Diluted coat (ataxia etc, delayed lethal)
Gn	gentoo	10	?	?	?	?	Belly spot, head spot
*Gsfali029*	gsf abnormal limbs mutant 029	?	?	?	?	?	Belly spot, polydactyly
*Gsfali19*	gsf abnormal limbs mutant 019	?	?	?	?	?	Belly spot, polydactyly
*Gsfali20*	gsf abnormal limbs mutant 020	?	?	?	?	?	Belly spot, polydactyly
*Gsfdcc2*	gsf dark coat colour 2	?	?	?	?	?	Belly spot, darker coat
*Gsfkta19*	gsf kinked tail 19	?	?	?	?	?	Belly spot, kinked tail
*Gsfsco6*	gsf spotted coat 6	?	?	?	?	?	Small head blaze
*Gsfsco7*	gsf spotted coat 7	?	?	?	?	?	Distal depigmentation, belly spot, white vibrissae
*Gsfund3*	gsf undefined 3	?	?	?	?	?	White ring around tail
*Gsfwbs011*	gsf white belly spot 011	?	?	?	?	?	Belly spot
*Gsfwbs1*	gsf white belly spot 1	?	?	?	?	?	Large belly spot, mice smaller and lighter than wild-type, males with kinked tail
*Gsfwbs3*	gsf white belly spot 3	?	?	?	?	?	Large belly spot
*Gsfwbs5*	gsf white belly spot 5	?	?	?	?	?	Large white belly spot
*Gsfwbs9*	gsf white belly spot 9	?	?	?	?	?	White belly spot
*Gsfwnw*	gsf white nose and whiskers	?	?	?	?	?	White nose and vibrissae
*Gsfwt*	gsf white tail	?	?	?	?	?	White tail
*Hpt*	hair patches	4	?	?	?	?	Hair patchy and skin has patches of pigment. Also cardiovascular defects etc.
hs	head spot (hs)	?	?	?	?	?	Head spot
*Idc*	iris dysplasia with cataract	?	?	?	?	?	Eye abnormalities, microphthalmia, belly spot
*Mtu*	Montu	12	?	?	?	?	Fewer neural crest cells. Belly spot, curly tail.
*Mwfh*	modifier of white forelock hypopigmentation	10	?	?	?	?	Modifies phenotype of Sox10^Dom
*Pbdl*	piebald-like	?	?	?	?	?	Spotting, progressive dilution, megacolon
Ph	Patch deletion region (Ph)	5	?	?	?	?	Spotting gene. Not Pdgfra
*pwk*	patchwork (pwk) (1)	10	?	?	?	?	Autocrine growth
rg	rotating (rg)	?	?	?	?	?	Ear development, neural, sometimes belly spot
*Rgsc58*	RIKEN Genomic Sciences Center (GSC), 58	?	?	?	?	?	White hairs, spots or band in dorsal lumbar region, varying with genetic background
*Rgsc117*	RIKEN Genomic Sciences Center (GSC), 117	?	?	?	?	?	Belly spot, domed skull, dominant (not all mice)
*Rgsc257*	RIKEN Genomic Sciences Center (GSC), 257	?	?	?	?	?	Scattered white hairs dorsally
*Rgsc269*	RIKEN Genomic Sciences Center (GSC), 269	?	?	?	?	?	White digits and tail tip, some white patches on belly
*Rgsc288*	RIKEN Genomic Sciences Center (GSC), 288	?	?	?	?	?	Patches of paler fur
*Rgsc394*	RIKEN Genomic Sciences Center (GSC), 394	?	?	?	?	?	Variable white digits and tail tip
*Rgsc398*	RIKEN Genomic Sciences Center (GSC), 398	?	?	?	?	?	Variable white digits and tail tip
*Rgsc444*	RIKEN Genomic Sciences Center (GSC), 444	?	?	?	?	?	Variable number of white spots on tail
*Rgsc510*	RIKEN Genomic Sciences Center (GSC), 510	?	?	?	?	?	Variable white digits and tail tip
*Rgsc662*	RIKEN Genomic Sciences Center (GSC), 662	?	?	?	?	?	Abnormal digit pigmentation and white tail tip
*Rgsc713*	RIKEN Genomic Sciences Center (GSC), 713	?	?	?	?	?	White distal feet and tail tip, sometimes belly spot
*Rgsc755*	RIKEN Genomic Sciences Center (GSC), 755	?	?	?	?	?	White toe tips and tail tip
*Rgsc767*	RIKEN Genomic Sciences Center (GSC), 767	?	?	?	?	?	White toe tips and tail tip
*Rgsc990*	RIKEN Genomic Sciences Center (GSC), 990	?	?	?	?	?	White toe tips and tail tip
*Rgsc1246*	RIKEN Genomic Sciences Center (GSC), 1246	?	?	?	?	?	Coat dilution especially ventrally; some white spotting
*Rgsc1461*	RIKEN Genomic Sciences Center (GSC), 1461	?	?	?	?	?	White belly spot, skeletal changes
*Rgsc1513*	RIKEN Genomic Sciences Center (GSC), 1513	?	?	?	?	?	Dilution dorsally, gray fur ventrally (even in A/-), some belly spotting
*Rgsc1520*	RIKEN Genomic Sciences Center (GSC), 1520	?	?	?	?	?	White digits, tail tip, belly spot
*Rgsc1545*	RIKEN Genomic Sciences Center (GSC), 1545	?	?	?	?	?	Belly spot
*Rgsc1554*	RIKEN Genomic Sciences Center (GSC), 1554	?	?	?	?	?	Belly spot
*Rgsc1658*	RIKEN Genomic Sciences Center (GSC), 1658	?	?	?	?	?	Scattered white hairs, some color dilution
*Rgsc1742*	RIKEN Genomic Sciences Center (GSC), 1742	?	?	?	?	?	Belly spot
*Rgsc1843*	RIKEN Genomic Sciences Center (GSC), 1843	?	?	?	?	?	Variable scattered white spots in females
*Rgsc1855*	RIKEN Genomic Sciences Center (GSC), 1855	?	?	?	?	?	Belly spot
rn	roan (rn)	14	?	?	?	?	micro-spotting, whole coat
rs	recessive spotting (rs)	5	?	?	?	?	Melanocyte numbers. Interacts with Kit
*rslk*	recessive spotting-like	5	?	?	?	?	Grey coat, head and/or belly spot, white spots
*Shmu*	shamu	9	?	?	?	?	White feet, belly spot, head spot
*Ska7*	skeletal/axial 7 (big toe, Ska^m07Jus, the claw)	?	?	?	?	?	Large belly spot and skeletal defects
*Skc42*	skin/coat color 42 (Skc^m42Jus)	?	?	?	?	?	Sharply delineated white belly
*Skc43*	skin/coat color 43 (Skc^m43Jus)	2	?	?	?	?	White belly patch and tail
*skc44*	skin/coat color 44 (Skc^m44Jus)	?	?	?	?	?	White belt, sometimes spotting
*Sls*	semidominant lethal spotting	2	?	?	?	?	Semidominant spotting. May be allelic to Edn3
*smk*	smoky (smk)	?	?	?	?	?	Grey coat on a/a, with reproductive system defects
*stn*	stunted	19	?	?	?	?	Belly spot, altered facial skeleton
*Stol*	stripy oily	X	?	?	?	?	stripy in heterozygote, dark in homo- and hemizygote. Oily hair. Microphthalmia
*Strx2*	striated, X-linked 2	X	?	?	?	?	striped fur, thick skin in +/-, lethal in -/Y
*Strx3*	striated, X-linked 3	X	?	?	?	?	striped fur, thick skin in +/-, lethal in -/Y
*Strx4*	striated, X-linked 4	X	?	?	?	?	striped fur, thick skin in +/-, lethal in -/Y
*Tcm*	total cataract with microphthalmia	4	?	?	?	?	Microphthalmia, abnormal iris, lens, retina
*tga*	transposition of the great arteries	4	?	?	?	?	Ectopic pigmentation in heart and thoracic cavity
*tmgc17*	Tennessee Mouse Genome Consortium 17	X	?	?	?	?	Belly spot, syndactyly
*Tmgc19*	Tennessee Mouse Genome Consortium 19	?	?	?	?	?	Belly spot, other spotting, postnatal dominant lethal
*Tmgc21*	Tennessee Mouse Genome Consortium 21	?	?	?	?	?	Belly spot, other spotting, white feet
tp	taupe (tp)	7	?	?	?	?	pigment color, female reproductive system
Ts	tail-short	11	?	?	?	?	Belly spot, white distal forelimbs. Deficiencies of skeleton, blood, growth etc.
vs	variable spotting (vs)	9	?	?	?	?	Spotting of belly & head, white feet & tail
*Vss*	variable spot and size	2	?	?	?	?	Variable belly spot, small size
*Wbct*	white belly, claws and tail	1	?	?	?	?	Variable spotting of belly feet, tail
*Whto*	White toes (Whto)	7	?	?	?	?	color, digit development
wn	white nose (wn)	15	?	?	?	?	White nose, ventral streak
*Wtgr*	wavy tiger	X	?	?	?	?	Coat striped and wavy; reproductive defects
*Xls*	X-linked stripe	X	?	?	?	?	Coat striping, 1 white spot on left flank
Xs	extra toes spotting (Xs)	7	?	?	?	?	color, digit development
*Xsl*	extra-toes spotting-like	7	?	?	?	?	Extra toes, belly spot
Melanocyte function only
*brwd*	brownoid (brwd)	?	?	?	?	?	Melanin color (brown)
*Cal7*	Caracul-like 7	15	?	?	?	?	Pale skin and eyes
*Crm*	cream	X	?	?	?	?	Pale yellow coat color
dj	dilution Japan	?	?	?	?	?	Pink skin, grey coat (a/a)
dp	dilution-Peru (dp)	15	?	?	?	?	pale coat
*Plto*	platino (plto)	?	?	?	?	?	Strong coat dilution
*powder*	powder	?	?	?	?	?	Pale coat
*Rgsc1820*	RIKEN Genomic Sciences Center (GSC), 1820	?	?	?	?	?	No pigment, albino
*Rgsc1904*	RIKEN Genomic Sciences Center (GSC), 1904	?	?	?	?	?	Coat color dilution
*ru2l*	ruby-eye 2-like	7	?	?	?	?	Like ru2. Grey coat, pale skin, red eyes
*sea*	sepia	1	?	?	?	?	coat color dilution
*skc14*	skin/coat color 14 (pale coat m6)	?	?	?	?	?	Pale coat
*skc19*	skin/coat color 19 (dilute m2Jus)	?	?	?	?	?	Pale coat
*skc21*	skin/coat color 21 (quicksilver)	?	?	?	?	?	Pale coat when young; white guard hairs
*skc22*	skin/coat color 22 (ruby eye m1Jus)	?	?	?	?	?	Pale coat when young; white guard hairs, red eyes
*skc23*	skin/coat color 23 (ruby eye m2Jus)	?	?	?	?	?	Pale coat when young; dark red eyes
*skc28*	skin/coat color 28 (silver m1)	?	?	?	?	?	Silver coat
*skc29*	skin/coat color 29 (silver m2)	?	?	?	?	?	Silver coat
*skc30*	skin/coat color 30 (silverback)	?	?	?	?	?	Coat silvering, melanocyte death
*skc31*	skin/coat color 31 (silverback2)	?	?	?	?	?	Coat silvering, melanocyte death
*Skc36*	skin/coat color 36 (mottled, Skc^m36Jus)	?	?	?	?	?	Mottled coat in female
*titanm*	titanium	?	?	?	?	?	Pale coat
*tmgc14*	Tennessee Mouse Genome Consortium 14	?	?	?	?	?	Diluted coat
*Tmgc18*	Tennessee Mouse Genome Consortium 18	?	?	?	?	?	Diluted coat, dominant
*uwl*	underwhite-like	15	?	?	?	?	Ruby-eyed cream. Possible uw (Slc45a2) allele
Eumelanin and Pheomelanin
*Cdif*	Color difference (QTL)	15	?	?	?	?	Modifies yellow coat color
da	dark (da)	7	?	?	?	?	pheomelanin deficient (extinct?)
*dal*	dark-like	7	?	?	?	?	like dark
*din*	Dense incisors	16	?	?	?	?	Loss of pheomelanin – white belly on A. Loss yellow on ears
*Dmyaq1*	Darker modification of yellow agouti QTL 1	1	?	?	?	?	Darkening of yellow and agouti coats
*Dmyaq2*	Darker modification of yellow agouti QTL 2	1	?	?	?	?	Darkening of yellow and agouti coats
*Dmyaq3*	Darker modification of yellow agouti QTL 3	15	?	?	?	?	Darkening of yellow and agouti coats
*gdn*	golden (gdn)	?	?	?	?	?	eumelanin deficient
gr	grizzled (gr)	10	?	?	?	?	Pheomelanin deficient, tail
*gri*	grey intense (gri)	11	?	?	?	?	Pheomelanin deficient
gt	gray tremor (gt), probably extinct	15	?	?	?	?	Pheomelanin deficient; spotting, neurological
*Och*	Ochre (Och)	4	?	?	?	?	Eumelanin. balance, other
*Pheo*	pheomelanin (QTL)	15	?	?	?	?	Modifies color of A^y/- mice. More eumelanic allele dominant
*Reph8*	reduced pheomelanin 8 (Reph8)	?	?	?	?	?	Agouti mice darker, reduced pheomelanin
*skc17*	skin/coat color 17 (dark back 2)	?	?	?	?	?	Dark back
U	Umbrous (U)	?	?	?	?	?	pheomelanin deficient
Up	Umbrous-patterned (Up)	?	?	?	?	?	pheomelanin deficient (patchy)
Ym	Yellow mottled (Ym)	X	?	?	?	?	Yellow mottling, hemizygous lethal
Yv	yellow value (QTL)	15	?	?	?	?	Modifier of eumelanin-pheomelanin ratio
Organelle biogenesis or transport
*dill*	Dilute-like	?	?	?	?	?	Like dilute
*rgsc80*	RIKEN Genomic Sciences Center (GSC), 80	?	?	?	?	?	Diluted coat, interacts with Myo5a^d
*skc6*	skin/coat color 6	?	?	?	?	?	Pale coat, lysosomal storage defect, long hair
*skc9*	skin/coat color 9 (pale coat m1)	?	?	?	?	?	Pale coat, lysosomal storage defect
*skc10*	skin/coat color 10 (pale coat m2)	?	?	?	?	?	Pale coat, lysosomal storage defect
*skc12*	skin/coat color 12 (pale coat m4)	?	?	?	?	?	Pale coat, lysosomal storage defect
*skc15*	skin/coat color 15 (pale tail)	?	?	?	?	?	Pale skin
Dark skin
*Dfp*	dark foot pads (Dfp)	?	?	?	?	?	Skin color
*Dfp2*	dark foot pads 2 (Dfp2)	4	?	?	?	?	Heterozygotes have black foot pads
*Dsk6*	Dark skin 6 (Dsk6)	3	?	?	?	?	Skin Color
*Dsk8*	Dark skin 8 (Dsk8)	3	?	?	?	?	Skin Color
*Dsk9*	Dark skin 9 (Dsk9)	11	?	?	?	?	Skin Color
*Rgsc45*	RIKEN Genomic Sciences Center (GSC), 45	?	?	?	?	?	Grey-pigmented footpads with thickened epidermis
*Rgsc63*	RIKEN Genomic Sciences Center (GSC), 63	?	?	?	?	?	Slightly dark hind footpads
*Rgsc150*	RIKEN Genomic Sciences Center (GSC), 150	?	?	?	?	?	Dark footpads
*Rgsc183*	RIKEN Genomic Sciences Center (GSC), 183	?	?	?	?	?	Dark footpads
*Rgsc194*	RIKEN Genomic Sciences Center (GSC), 194	?	?	?	?	?	Slightly dark footpads
*Rgsc207*	RIKEN Genomic Sciences Center (GSC), 207	?	?	?	?	?	Pigmented dermatoglyphs of footpads
*Rgsc372*	RIKEN Genomic Sciences Center (GSC), 372	?	?	?	?	?	Dark footpads
*Rgsc515*	RIKEN Genomic Sciences Center (GSC), 515	?	?	?	?	?	Dark footpads
*Rgsc526*	RIKEN Genomic Sciences Center (GSC), 526	?	?	?	?	?	Dark footpads
*Rgsc715*	RIKEN Genomic Sciences Center (GSC), 715	?	?	?	?	?	Slightly dark footpads
*Skc39*	skin/coat color 39 (Skc^m39Jus)	7	?	?	?	?	Dark skin (footpads)
*Skc41*	skin/coat color 41 (blackfoot 1, Skc^m41Jus)	?	?	?	?	?	Hyperpigmentation
*soo*	sooty foot (soo)	2	?	?	?	?	Skin Color
Unknown
*Dlp1*	Dominant lightened pigment 1	?	?	?	?	?	Lighter, sometimes slight belly spot
*Dlp2*	Dominant lightened pigment 2	?	?	?	?	?	Lighter
*Dlp3*	Dominant lightened pigment 3	?	?	?	?	?	Much Lighter
fe	faded (fe) (1)	6	?	?	?	?	Progressive coat fading, skin lesions
*fnld*	faint lined (fnld)	X	?	?	?	?	Hemizygous lethal. Fine dorsal striping
Fw	Fawn (Fn)	?	?	?	?	?	Lightens Rn mutant mice
ge	greige (ge)	1	?	?	?	?	Paler coat and skin in dilute, brown mice
*Gsfbcc2*	gsf bright coat colour 2	?	?	?	?	?	Complex coat color variation
*lgr*	London grey (lgr)	?	?	?	?	?	Grey coat, later patchy, systemic effects
*Lgt*	light (lgt)	?	?	?	?	?	Light coat (dominant), light skin (recessive)
Li	Lined (Li)	X	?	?	?	?	Hemizygous lethal. Fine striping, Deletion that includes Rsk2
*Mch*	Modifier of chinchilla (Mch)	?	?	?	?	?	Tyr-c-ch mice look browner
*Mchm1*	Modifier of chinchilla-mottled 1 (Mchm1)	?	?	?	?	?	Lightens Tyr-c-m mice
*Mchm2*	Modifier of chinchilla-mottled 1 (Mchm2)	?	?	?	?	?	Lightens Tyr-c-m mice
*Mfs*	mutant fur is striped	13	?	?	?	?	“Striped fur”
*nmf192*	neuroscience mutagenesis facility, 192	?	?	?	?	?	Spotted or mottled retinae
*nur15*	neurological 15 (dilute ataxic)	?	?	?	?	?	Diluted coat (and neural effects, early lethal)
*nur16*	neurological 16 (dilute ataxic 2)	?	?	?	?	?	Diluted coat (and neural effects, early lethal)
*Rd4*	retinal degeneration 4	4	?	?	?	?	Eye defects include pigmented spots in the fundus
*Rd9*	retinal degeneration 9	X	?	?	?	?	Retina mottled and degenerates
*rdp*	reduced pigment (not same as rp/Bloc1s3)	?	?	?	?	?	Marked pigment dilution, red eyes
*Rgsc71*	RIKEN Genomic Sciences Center (GSC), 71	?	?	?	?	?	Dilution dorsally (dominant), grey belly, sometimes belly spot
*Rgsc212*	RIKEN Genomic Sciences Center (GSC), 212	?	?	?	?	?	Black rostrally and brown caudally of a mid-trunk demarcation line
*Rgsc547*	RIKEN Genomic Sciences Center (GSC), 547	?	?	?	?	?	Patch of brown fur between the eyes, by 8 weeks old
*Rgsc796*	RIKEN Genomic Sciences Center (GSC), 796	?	?	?	?	?	Slight coat dilution (dominant) and behavioral changes
*skc18*	skin/coat color 18 (dilute m1Jus)	?	?	?	?	?	Abnormal coat color, small size
*Skc45*	skin/coat color 45 (dusty, Skc^m45Jus)	?	?	?	?	?	“Shading of coat in animals expected to be white”
*Sta*	Autosomal striping (Sta)	X	?	?	?	?	Striping in both sexes
*Sta2*	striping, autosomal 2	?	?	?	?	?	striped coat
*Sta3*	striping, autosomal 3	?	?	?	?	?	striped coat
*Strg*	Striped greasy (Strg)	X	?	?	?	?	Hair texture and color
*tmgc22*	Tennessee Mouse Genome Consortium 22	7	?	?	?	?	Abnormal RPE, choroid
*tmgc23*	Tennessee Mouse Genome Consortium 23	7	?	?	?	?	RPE hyperpigmented around optic disk
*tmgc25*	Tennessee Mouse Genome Consortium 25	7	?	?	?	?	Abnormal RPE, hypopigmented fundus
*tmgc29*	Tennessee Mouse Genome Consortium 29	7	?	?	?	?	Like tmgc25
*wuf*	white underfur (wuf)	?	?	?	?	?	Underfur white (Extinct?)
*Xmo2*	X-linked mottled 2	X	?	?	?	?	Mottled coat. Hemizygous lethal
*Xmo3*	X-linked mottled 3	X	?	?	?	?	Mottled coat. Hemizygous lethal
*Xmo4*	X-linked mottled 4	X	?	?	?	?	Mottled coat. Hemizygous lethal
*Xmo5*	X-linked mottled 5	X	?	?	?	?	Mottled coat. Hemizygous lethal
*Xmo6*	X-linked mottled 6	X	?	?	?	?	Mottled coat. Hemizygous lethal

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

Development

Components of melanosomes and their precursors

Melanosome construction / protein routing (HPS-related)

Melanosome transport

Eumelanin and Pheomelanin

Systemic effects

Summary of the non-cloned mouse color genes and human homologues

Note: Categories and functions are mostly provisional or speculative

Development

Melanocyte function only

Eumelanin and Pheomelanin

Organelle biogenesis or transport

Dark skin

Unknown