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Cone-Rod Dystrophy I - PRA (cord I) Overview

Cone-Rod Dystrophy I - PRA (cord I)
US$ 75.00 RRP
US$ 67.50 REGISTERED USER PRICE
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Category: Ophthalmologic (Associated with the Eyes)

Gene: RPGR interacting protein 1 (RPGRIP1) on chromosome 15

Variant Detected: Nucleotide Insertion c.338-339InsA(29)GGAAGCAACAGGATG p.Thr59STOP (frameshift and premature stop codon)

Severity: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.

Mode of Inheritance: Autosomal Recessive with Incomplete Penetrance

Test Overview: Cone–rod dystrophies (CRDs) represent a group of progressive, inherited blinding diseases characterized by primary dysfunction and loss of cone photoreceptors preceding or accompanied by rod death.

Research Citation(s): Mellersh CS, et al. Canine RPGRIP1 mutation establishes cone–rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. (2006) Genomics, 88(3);293-301.

Associated Breed(s): Labradoodle ,  French Bulldog,  Miniature Dachshund Long Hair,  Miniature Dachshund Smooth Hair,  Miniature Dachshund Wire Hair,  Standard Dachshund Long Hair,  Standard Dachshund Smooth Hair,  Standard Dachshund Wire Hair,  Mixed Breed,  Australian Cobberdog,  Curly Coated Retriever,  Dachshund ,  English Springer Spaniel,  Papillon,  Spoodle,  Pembroke Welsh Corgi,  Australian Labradoodle ,  Kaninchen Dachshund,