OMIA 001821-9615 : Coat colour, albinism, oculocutaneous type IV in Canis lupus familiaris
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."Breeds: Bull Mastiff, Doberman Pinscher, Lhasa Apso, Pekingese, Pomeranian. 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|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Doberman Pinscher||Coat colour, albinism, oculocutaneous type IV||SLC45A2||deletion, gross (>20)||"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|
|Lhasa Apso Mixed breed Pekingese Pomeranian||Coat colour, albinism, oculocutaneous type IV||SLC45A2||missense||c.1478G>A||p.G493D||2015||25790827|
|Bull Mastiff||Coat colour, albinism, oculocutaneous type IV||SLC45A2||deletion, small (<=20)||CanFam3.1||4||g.73864860delC||c.1287delC||p.Met430CysfsTer4||2017||28737247|
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.
|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.|
- 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