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Coat Colour, Albinism, Oculocutaneous Type IV
Breed: Dobermann
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
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
SLC45A2
Mutation
g.77062970_77067051del4081bp
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
SLC45A2
Mutation
g.77062970_77067051del4081bp
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
SLC45A2
Mutation
g.77062970_77067051del4081bp
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Oculocutaneous Albinism
Gene Name
SLC45A2
Mutation
g.77062970_77067051del4081bp
Nature of test
mutation test
FCI Number
143
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
SLC45A2
Mutation
g.77062970_77067051del4081bp
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
SLC45A2
Mutation
g.77062970_77067051del4081bp
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
Oculocutaneous Albinism
Gene Name
SLC45A2
Mutation
g.77062970_77067051del4081bp
Nature of test
mutation test
GTP- or Breed-Specific Publications
Winkler PA, Gornik KR, Ramsey DT, Dubielzig RR, Venta PJ, Petersen-Jones SM, et al. (2014) A Partial Gene Deletion of SLC45A2 Causes Oculocutaneous Albinism in Doberman Pinscher Dogs. PLoS ONE 9(3): e92127. doi:10.1371/journal.pone.0092127
Application in the Breed
color dilution, lack of pigmentation, photosensitive
Inheritance
AR
FCI Number
143
GTP Breed
Doberman Pinscher
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
SLC45A2
Mutation
g.77062970_77067051del4081bp
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
SLC45A2
Mutation
g.77062970_77067051del4081bp
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
SLC45A2
Mutation
g.77062970_77067051del4081bp
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
SLC45A2
Mutation
g.77062970_77067051del4081bp
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
SLC45A2
Mutation
g.77062970_77067051del4081bp
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
SLC45A2
Mutation
g.77062970_77067051del4081bp
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