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Generalised PRA 1 (Golden Retriever Type)

Generalised PRA 1 (Golden Retriever Type)

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Test Overview:

Genetic testing for the SLC4A3 mutation (GR-PRA1) is recommended for Golden Retrievers, Golden Doodles, and related breeds. Dogs with two copies of the mutation (affected) should not be bred to avoid producing affected puppies. Carriers (one copy) should be bred only to dogs clear of the mutation to prevent affected offspring while maintaining genetic diversity. Mating two carriers results in a 25% chance of affected puppies.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

Solute carrier family 4 member 3 (SLC4A3) on chromosome 37

Variant Detected:

C.2601-2602 Insertion C p.Glu868Arg-frameshiftX104

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

Recommended Screening:

1. DNA test all breeding animals prior to entering into breeding program (e.g. at 1 year of age). 2. Examination by a specialist veterinary ophthalmologist beginning with the puppy eye exam and then annually from 1 year of age.

Research Citation(s):

Downs LM, Wallin-Hakansson B, Boursnell M, Marklund S, Hedhammar A, Truve K, Hubinette L, Lindblad-Toh K, Bergstrom T, Mellersh CS. A frameshift mutation in golden retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations. PLoS One. 2011;6(6):e21452

Associated Breed(s):

Golden Retriever, Goldendoodle, Groodle, Mixed Breed,

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