OMIA:001821-9615 : Coat colour, albinism, oculocutaneous type IV in Canis lupus familiaris (dog)

In other species: Japanese medaka , western gorilla , taurine cattle

Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 606574 (trait) , 227240 (trait) , 606202 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2014

Species-specific name: White Doberman Pinscher

Species-specific symbol: WDP

History: As reported by Winkler et al. (2014), "In 1976, a female Doberman pinscher with novel “white” coat-coloration was born and registered with the American Kennel Club. The uniqueness of the light coat-color prompted breeders to utilize line breeding to maintain the phenotype, resulting in an extensive pedigree in which all living white Doberman pinschers (WDPs) are traceable to this initial white female."

Inheritance: As reported by Winkler et al. (2014), "A research study conducted by the DPCA [Doberman Pincher Club of America] concluded an autosomal recessive mode of inheritance (".

Mapping: Based on the very strong phenotypic resemblance between the white phenotype of Doberman Pinschers and oculocutaneous albinism (OCA) in humans, Winkler et al. (2014) obtained flanking markers from the canine genome assembly for the canine orthologues of four of the genes involved in OCD in humans, namely tyrosinase (TYR) for OCA1, P-gene for OCA2, tyrosinase-related protein 1 (TYRP1) for OCA3, and solute carrier family, member 2 (SLC45A2) for OCA4. An exclusion analysis involving 20 white and 20 standard Doberman Pinchers eliminated all but the last candidate gene.

Molecular basis: Sequencing of the candidate gene in one white and one standard Doberman Pincher "revealed a 4,081 base pair deletion resulting in loss of the terminus of exon seven of SLC45A2 (chr4[ratio]77,062,968–77,067,051)" (g.27141_31223del (CanFam2)) as a highly likely causative mutation (Winkler et al., 2014). As also reported by Winkler et al. (2014), "This mutation is predicted to cause the last 50 amino acids of exon 7 to be replaced by 191 new amino acids before an in-frame stop codon is found, as predicted from the canine reference genome (CanFam2.0) . . . . This deletion also removes the poly-A addition signal (AATAAA), and the next predicted polyadenylation signal for the mutant chromosome is 6,106 bp downstream from the new stop codon." Wijesena and Schmutz (2015): c.1478G>A; p.G493D in exon 7 in a female albino Lhasa Apso and in "an albino Pekingese, 2 albino Pomeranians, and an albino mixed breed dog that was small and long haired" Caduff et al. (2017) reported a likely causal variant in Bullmastiffs: "a single base deletion in exon 6 of the SLC45A2 gene (NM_001037947.1:c.1287delC) . . . This deletion is predicted to result in an early premature stop codon. It was confirmed by Sanger sequencing and perfectly co-segregated with the phenotype in the available family members. We genotyped 174 unrelated dogs from diverse breeds, all of which were homozygous wildtype."

Clinical features: Dogs with oculocutaneous albinism type IV have white (cream) coat coloration, blue eyes (iris), pink nose and lips, hypopigmented adnexal structures (eyelid margins, nictitating membrane margins, and cilia), and hypopigmented retinal pigment epithelium and choroid (Winkler et al., 2014). Dogs may also present with photophobia and vision defects (Winkler et al., 2014). Additionally, exposure of the hypopigmented skin to ultraviolet radiation may result in cutaneous melanocytic neoplasms and/or ocular masses (Caduff et al., 2017; Winkler et al., 2014). IT thanks DVM student Arpan Mann, who provided the basis of this contribution in May 2023.

Breeds: Bull Mastiff (Dog) (VBO_0200253), Doberman Pinscher (Dog) (VBO_0200442), Lhasa Apso (Dog) (VBO_0200824), Pekingese (Dog) (VBO_0200994), Pomeranian (Dog) (VBO_0201043).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SLC45A2 solute carrier family 45, member 2 Canis lupus familiaris 4 NC_051808.1 (74344944..74373772) SLC45A2 Homologene, Ensembl , NCBI gene


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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
795 Bull Mastiff (Dog) Coat colour, albinism, oculocutaneous type IV SLC45A2 deletion, small (<=20) Naturally occurring variant CanFam3.1 4 g.73864860del c.1287del p.(M430Cfs*4) NM_001037947.1; NP_001033036.1; deletion C 2017 28737247
675 Doberman Pinscher (Dog) Coat colour, albinism, oculocutaneous type IV SLC45A2 deletion, gross (>20) Naturally occurring variant CanFam3.1 4 g.73867275_73871357del c.1442_*3934del NM_001037947.1; "a 4,081 base pair deletion resulting in loss of the terminus of exon seven of SLC45A2 (chr4[ratio]77,062,968-77,067,051)" (g.27141_31223del; CanFam2.0) 2014 24647637
92 Lhasa Apso (Dog) Mixed Breed (Dog) Pekingese (Dog) Pomeranian (Dog) Coat colour, albinism, oculocutaneous type IV SLC45A2 missense Naturally occurring variant CanFam3.1 4 g.73867311G>A c.1478G>A p.(G493D) NM_001037947.1 2015 25790827 Genomic position in CanFam3.1 provided by Robert Kuhn

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001821-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2023 Meadows, J.R.S., Kidd, J.M., Wang, G.D., Parker, H.G., Schall, P.Z., Bianchi, M., Christmas, M.J., Bougiouri, K., Buckley, R.M., Hitte, C., Nguyen, A.K., Wang, C., Jagannathan, V., Niskanen, J.E., Frantz, L.A.F., Arumilli, M., Hundi, S., Lindblad-Toh, K., Ginja, C., Agustina, K.K., André, C., Boyko, A.R., Davis, B.W., Drögemüller, M., Feng, X.Y., Gkagkavouzis, K., Iliopoulos, G., Harris, A.C., Hytönen, M.K., Kalthoff, D.C., Liu, Y.H., Lymberakis, P., Poulakakis, N., Pires, A.E., Racimo, F., Ramos-Almodovar, F., Savolainen, P., Venetsani, S., Tammen, I., Triantafyllidis, A., vonHoldt, B., Wayne, R.K., Larson, G., Nicholas, F.W., Lohi, H., Leeb, T., Zhang, Y.P., Ostrander, E.A. :
Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol 24:187, 2023. Pubmed reference: 37582787. DOI: 10.1186/s13059-023-03023-7.
Wade, C.M., Nuttall, R., Liu, S. :
Comprehensive analysis of geographic and breed-purpose influences on genetic diversity and inherited disease risk in the Doberman dog breed. Canine Med Genet 10:7, 2023. Pubmed reference: 37277858. DOI: 10.1186/s40575-023-00130-3.
2022 [No authors listed] :
Canine coat pigmentation genetics: a review. Anim Genet 53:474-475, 2022. Pubmed reference: 35510419. DOI: 10.1111/age.13185.
Brancalion, L., Haase, B., Wade, C.M. :
Canine coat pigmentation genetics: a review. Anim Genet 53:33-34, 2022. Pubmed reference: 34751460. DOI: 10.1111/age.13154.
2017 Caduff, M., Bauer, A., Jagannathan, V., Leeb, T. :
A single base deletion in the SLC45A2 gene in a Bullmastiff with oculocutaneous albinism. Anim Genet 48:619-621, 2017. Pubmed reference: 28737247. DOI: 10.1111/age.12582.
2015 Wijesena, H.R., Schmutz, S.M. :
A missense mutation in SLC45A2 is associated with albinism in several small long haired dog breeds. J Hered 106:285-8, 2015. Pubmed reference: 25790827. DOI: 10.1093/jhered/esv008.
2014 Winkler, P.A., Gornik, K.R., Ramsey, D.T., Dubielzig, R.R., Venta, P.J., Petersen-Jones, S.M., Bartoe, J.T. :
A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman Pinscher dogs. PLoS One 9:e92127, 2014. Pubmed reference: 24647637. DOI: 10.1371/journal.pone.0092127.

Edit History

  • Created by Frank Nicholas on 28 Mar 2014
  • Changed by Frank Nicholas on 28 Mar 2014
  • Changed by Frank Nicholas on 23 Mar 2015
  • Changed by Frank Nicholas on 29 Aug 2017
  • Changed by Imke Tammen2 on 04 Jun 2023