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Coat colour, oculocutaneous albinism, OCA2-related
Breed: German Spitz/ giant
Generic Phene Data
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 in this breed
General
Disease Name
Coat colour, oculocutaneous albinism, OCA2-related
OMIA
2130
Gene Name
OCA2
Mutation
no test 2020
Mutation 2
g.31715704A>C
Test Type
Other Genetic Traits
Details
From OMIA (2021): "The three affected German Spitz puppies reported in Caduff et al. (2017) showed a light brown (hazel) coat colour and blue eyes. Pigmentation of the coat and eyes became slightly darker with age. The owner reported that the affected puppies used to squint in bright sunlight (photophobia) and had difficulties to perceive hand signals in bright sunlight. Photophobia and mild to moderate visual deficits are also common in human patients with oculocutaneous albinism type II."
Published
2017 Caduff, M., Bauer, A., Jagannathan, V., Leeb, T. : OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism. PLoS One 12:e0185944, 2017. Pubmed reference: 28973042. DOI: 10.1371/journal.pone.0185944.
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
German Spitz
HSP Test-Specific Data
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
No Test/Unknown GTP availability
GTP
Breed
OMIA
Gene Name
OCA2
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