Progressive Retinal Atrophy - rd1PRA (SINGLE ASSAY TEST) Overview
Progressive Retinal Atrophy - rd1PRA (SINGLE ASSAY TEST)
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Category: Haemolymphatic - Associated with the blood and lymph
Gene: Beta subunit of the cGMP phosphodiesterase gene (PDE6B) on chromosome 3
Variant Detected: Nucleotide Deletion c.2404-2406del p.Asn802del
Severity: Scale 1 has a very low degree of severity. It is a trait and so is tested based on preference, not usually for health concerns.
Mode of Inheritance: Autosomal Recessive
Research Citation(s): Goldstein O, et al. IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds. (2013) Invest Ophthalmol Vis Sci 54(10);7005-7019.
Associated Breed(s): American Staffordshire Terrier, American Pit Bull Terrier,