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Oculocutaneous Albinism (OCA) is a group of disorders in which an affected animal produces little to no pigment, leading to silver/white fur, pale eyes and increased sensitivity to light.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 4 |
| Mutation | c.1287delC |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Also known as | WDP |
Informations générales
Oculocutaneous Albinism (OCA) is a group of disorders in which an affected animal produces little to no pigment, leading to silver/white fur, pale eyes and increased sensitivity to light. The variant of OCA type 4, specific to the Bullmastiff, is caused by a recessive mutation to the SLC45A2 gene.
Caractéristiques cliniques
OCA4 in the Bullmastiff manifests as near-white coat, minimally-pigmented (light pink) skin, and blue eyes. No additional health issues such as photophobia (high sensitivity to bright light) have as yet been reported.
Additional Information
Références
Pubmed ID: 28737247
Year published: 2017
Omia ID: 1821
Omia variant ID: 795