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Mutation screening of the CCDC66 gene revealed a 1-bp insertion in exon 6 leading to a stop codon as the underlying cause of disease for generalized progressive retinal atrophy on in the Schapendoes breed.
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Specifications
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Gene | |
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specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
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Chromosome | |
Also known as | |
Year Published |
General information
Mutation screening of the CCDC66 gene revealed a 1-bp insertion in exon 6 leading to a stop codon as the underlying cause of disease for generalized progressive retinal atrophy on in the Schapendoes breed.
Clinical features
Affected Schapendoes dogs appear normal when young, but develop gPRA at an age of onset between 2-5 years. Early in the disease, affected dogs are night-blind, lacking the ability to adjust their vision to dim light; later, their daytime vision also fails. This process of complete photoreceptor degeneration takes up to 2 years.
Additional information
References
Pubmed ID: 19777273
Omia ID: 1521