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Generalised PRA 2 (Golden Retriever Type)

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Test Overview:

Genetic testing for the TTC8 mutation (GR-PRA2) is recommended for Golden Retrievers and related breeds. Dogs with two copies of the mutation (pra2/pra2) should not be bred as they will be affected. Carriers (N/pra2) should be bred only to dogs clear of the mutation (N/N) to avoid affected puppies and maintain genetic diversity. Avoid breeding two carriers together due to the 25% risk of producing affected puppies. Test offspring from carrier matings before considering them for breeding.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

Tetratricopeptide repeat domain 8 (TTC8) on chromosome 8

Variant Detected:

c.669delA p.Lys223Arg-frameshiftX15

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Downs LM et al, Canine Genetics and Epi, A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever, (2014) 1:4 1-12.

Associated Breed(s):

Golden Retriever, Goldendoodle, Groodle, Mixed Breed,

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