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Coat Colour, Albinism, Oculocutaneous Type IV
Breed: German Spitz/ giant
Generic Phene Data
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
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
SLC45A2
Mutation
c.1478G>A; g.77062970_77067051del4081bp
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Oculocutaneous Albinism
Gene Name
SLC45A2
Mutation
c.1478G>A
Nature of test
mutation test
Application in the Breed
White with pink skin, nose leather, paw pads, lips and either pink or red irises
Inheritance
AR
FCI Number
97
GTP Breed
German Spitz/ Giant
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
SLC45A2
Mutation
c.1478G>A; g.77062970_77067051del4081bp
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
SLC45A2
Mutation
c.1478G>A; g.77062970_77067051del4081bp
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
SLC45A2
Mutation
c.1478G>A; g.77062970_77067051del4081bp
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
SLC45A2
Mutation
c.1478G>A; g.77062970_77067051del4081bp
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
SLC45A2
Mutation
c.1478G>A; g.77062970_77067051del4081bp
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Oculocutaneous Albinism
Gene Name
SLC45A2
Mutation
g.77062970_77067051del4081bp
Nature of test
mutation test
FCI Number
97
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
SLC45A2
Mutation
c.1478G>A; g.77062970_77067051del4081bp
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
SLC45A2
Mutation
c.1478G>A; g.77062970_77067051del4081bp
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
SLC45A2
Mutation
c.1478G>A; g.77062970_77067051del4081bp
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
SLC45A2
Mutation
c.1478G>A; g.77062970_77067051del4081bp
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