General
Disease Name
Coat Colour, Albinism, Oculocutaneous Type IV
Disease Name 2
Oculocutaneous Albinism
OMIA
1821
Gene Name
SLC45A2
Mutation
g.77062970_77067051del4081bp
Mutation 2
c.1478G>A
OMIM
606574
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
