SLC45A2=MATP
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Linkage Mapping
Mariat D; Taourit S; Guérin G (2003 Jan-Feb)
A mutation in the MATP gene causes the cream coat colour in the horse.
GP00001057
SLC45A2
Q9UMX9
Morphology
c.457G>A p.(Asp153Asn)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
SLC45A2=MATP
Equus caballus
horse - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (feathers)
Coding,
SNP
Coturnix japonica
Japanese quail - (species)
Domesticated
Linkage Mapping
Gunnarsson U; Hellström AR; Tixier-Boichard M ; et al. (2007)
Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail.
GP00001058
SLC45A2
Q9UMX9
Morphology
G->T transversion at the splice acceptor site just preceding exon 4; causes in-frame skipping of exon 4
Coturnix japonica
Japanese quail - (species)
Coturnix japonica
Japanese quail - (species)
SLC45A2=MATP
Coturnix japonica
Japanese quail - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (feathers)
Coding,
Deletion
N
Gallus gallus
chicken - (species) D
Domesticated
Linkage Mapping
Gunnarsson U; Hellström AR; Tixier-Boichard M ; et al. (2007)
Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail.
GP00001059
SLC45A2
Q9UMX9
Morphology
1bp deletion at codon 36; resulting in frameshift and a premature stop codon in exon 1; the corresponding mRNA appears to be degraded by Nonsense-mediated mRNA decay. N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
SLC45A2=MATP
Gallus gallus
chicken - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (eyes; fur)
Coding,
SNP
Mus musculus
house mouse - (species)
Domesticated
Linkage Mapping
Du J; Fisher DE (2002)
Identification of Aim-1 as the underwhite mouse mutant and its transcriptional regulation by MITF.
GP00001060
SLC45A2
Q9UMX9
Morphology
N153D
Mus musculus
house mouse - (species)
Mus musculus
house mouse - (species)
SLC45A2=MATP
Mus musculus
house mouse - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (eyes; hair; skin)
Coding,
SNP
Homo sapiens
human - (species)
Intraspecific
Association Mapping
Graf J; Hodgson R; van Daal A (2005)
Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation varia[...]
3 Additional References
GP00001061
SLC45A2
Q9UMX9
Morphology
Phe374Leu
Homo sapiens
human - (species)
Homo sapiens
human - (species)
SLC45A2=MATP
Homo sapiens
human - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (feathers)
Coding,
SNP
Columba livia
rock pigeon - (species) D
Domesticated
Linkage Mapping
Domyan ET; Guernsey MW; Kronenberg Z ; et al. (2014)
Epistatic and combinatorial effects of pigmentary gene mutations in the domestic pigeon.
GP00001062
SLC45A2
Q9UMX9
Morphology
His341Arg
Columba livia
rock pigeon - (species)
Columba livia
rock pigeon - (species) D
SLC45A2=MATP
Columba livia
rock pigeon - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (coat)
Coding,
SNP
Panthera tigris
tiger - (species) D
Intraspecific
Association Mapping
Xu X; Dong GX; Hu XS ; et al. (2013)
The genetic basis of white tigers.
GP00001063
SLC45A2
Q9UMX9
Morphology
A477V
Panthera tigris
tiger - (species)
Panthera tigris
tiger - (species) D
SLC45A2=MATP
Panthera tigris
tiger - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (coat; albinism)
Coding,
SNP
Bos taurus
cattle - (species) D
Domesticated
Linkage Mapping
Rothammer S; Kunz E; Seichter D ; et al. (2017)
Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocuta[...]
GP00002036
SLC45A2
Q9UMX9
Morphology
exact causing mutation(s) unknown - two possible amino acid changes
Bos taurus
cattle - (species)
Bos taurus
cattle - (species) D
SLC45A2=MATP
Bos taurus
cattle - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (albinism)
Coding,
Insertion
Oryzias latipes
Japanese medaka - (species) D
Domesticated
Linkage Mapping
Fukamachi S; Shimada A; Shima A (2001)
Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka.
GP00002286
SLC45A2
Q9UMX9
Morphology
tandem insertion of 195 nt identical to the adjacent ORF sequence. This tandem repeat produces an insertion of 65 amino acids
Oryzias latipes
Japanese medaka - (species)
Oryzias latipes
Japanese medaka - (species) D
SLC45A2=MATP
Oryzias latipes
Japanese medaka - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (albinism)
Cis-regulatory,
Complex Change
Oryzias latipes
Japanese medaka - (species) D
Domesticated
Candidate Gene
Fukamachi S; Kinoshita M; Tsujimura T ; et al. (2008)
Rescue from oculocutaneous albinism type 4 using medaka slc45a2 cDNA driven by its own promoter.
GP00002287
SLC45A2
Q9UMX9
Morphology
Promoter complex change resulting in loss of expression : an inversion of 167 bp ; an insertion of 48 bp ; and a deletion of 172 bp
Oryzias latipes
Japanese medaka - (species)
Oryzias latipes
Japanese medaka - (species) D
SLC45A2=MATP
Oryzias latipes
Japanese medaka - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (feathers)
Coding,
SNP
N
Gallus gallus
chicken - (species) D
Domesticated
Association Mapping
Gunnarsson U; Hellström AR; Tixier-Boichard M ; et al. (2007)
Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail.
GP00002294
SLC45A2
Q9UMX9
Morphology
c.1039C>A p.L347M N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
SLC45A2=MATP
Gallus gallus
chicken - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (feathers)
Coding,
SNP
N
Gallus gallus
chicken - (species) D
Domesticated
Association Mapping
Gunnarsson U; Hellström AR; Tixier-Boichard M ; et al. (2007)
Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail.
GP00002295
SLC45A2
Q9UMX9
Morphology
c.830A>G p.Y277C N
Gallus gallus
chicken - (species)
Gallus gallus
chicken - (species) D
SLC45A2=MATP
Gallus gallus
chicken - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (coat; albinism)
Coding,
Deletion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Winkler PA; Gornik KR; Ramsey DT ; et al. (2014)
A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman pinscher dogs.
GP00002296
SLC45A2
Q9UMX9
Morphology
4081 base pair deletion resulting in loss of the terminus of exon seven of SLC45A2 N
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
SLC45A2=MATP
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (coat; albinism)
Coding,
SNP
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Wijesena HR; Schmutz SM (2015 May-Jun)
A Missense Mutation in SLC45A2 Is Associated with Albinism in Several Small Long Haired Dog Breeds.
GP00002297
SLC45A2
Q9UMX9
Morphology
c.1478G>A p.G493D N
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
SLC45A2=MATP
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (coat; albinism)
Coding,
Deletion
N
Canis lupus familiaris
dog - (subspecies) D
Domesticated
Candidate Gene
Caduff M; Bauer A; Jagannathan V ; et al. (2017)
A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism.
GP00002298
SLC45A2
Q9UMX9
Morphology
c.1287delC p.Met430CysfsTer4 N
Canis lupus familiaris
dog - (subspecies)
Canis lupus familiaris
dog - (subspecies) D
SLC45A2=MATP
Canis lupus familiaris
dog - (subspecies)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Sevane N; Sanz CR; Dunner S (2019)
Explicit evidence for a missense mutation in exon 4 of SLC45A2 gene causing the pearl coat dilution [...]
GP00002304
SLC45A2
Q9UMX9
Morphology
c.985G>A p.(Ala329Thr)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
SLC45A2=MATP
Equus caballus
horse - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Holl HM; Pflug KM; Yates KM ; et al. (2019)
A candidate gene approach identifies variants in SLC45A2 that explain dilute phenotypes, pearl and s[...]
GP00002305
SLC45A2
Q9UMX9
Morphology
c.568G>A p.(Gly190Arg)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
SLC45A2=MATP
Equus caballus
horse - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (coat)
Coding,
SNP
Equus caballus
horse - (species) D
Domesticated
Candidate Gene
Holl HM; Pflug KM; Yates KM ; et al. (2019)
A candidate gene approach identifies variants in SLC45A2 that explain dilute phenotypes, pearl and s[...]
GP00002306
SLC45A2
Q9UMX9
Morphology
c.305G>A p.(Arg102Gln)
Equus caballus
horse - (species)
Equus caballus
horse - (species) D
SLC45A2=MATP
Equus caballus
horse - (species)
Published - Accepted by Curator
SLC45A2=MATP
Coloration (feathers)
Coding,
SNP
Coturnix japonica
Japanese quail - (species)
Domesticated
Linkage Mapping
Gunnarsson U; Hellström AR; Tixier-Boichard M ; et al. (2007)
Mutations in SLC45A2 cause plumage color variation in chicken and Japanese quail.
GP00002307
SLC45A2
Q9UMX9
Morphology
c.287C>A p.A72D
Coturnix japonica
Japanese quail - (species)
Coturnix japonica
Japanese quail - (species)
SLC45A2=MATP
Coturnix japonica
Japanese quail - (species)
Published - Accepted by Curator