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Progressive Retinal Atrophy (Giant Schnauzer Type)

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Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

NECAP1

Variant Detected:

chr27:37468611 (canFam3): G/A

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Hitti RJ, Oliver JAC, Schofield EC, Bauer A, Kaukonen M, Forman OP, Leeb T, Lohi H, Burmeister LM, Sargan D, Melleresh CS. Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes NECAP1 as a Novel Candidate Gene for Retinal Degeneration. Genes (Basel). 2019 May 21;10(5). pii: E385. doi: 10.3390/genes10050385. [PubMed: 31117272]

Associated Breed(s):

Giant Schnauzer, Schnoodle,

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