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Coat Colour, Albinism, Oculocutaneous Type IV
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
General
Disease Name
Coat Colour, Albinism, Oculocutaneous Type IV
OMIA
1821
Gene Name
SLC45A2
Mutation
g.77062970_77067051del4081bp
Mutation 2
c.1478G>A
Test Type
Other Genetic Traits
Details
Responsible for "white" coat colour albanism in a number of breeds.
Published
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.
Published 2
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.
Published 3
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.
Body/System/Process
Coat Colour/Pattern/Type
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Bull Mastiff, Doberman Pincher, Lhasa Apso, Pekingese, Pomeranian
