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Article

Molecular diagnostic tests for ascertainment of genotype at the rod cone dysplasia 1 (rcd1) locus in Irish setters.

Current eye research - 1 Mar 1995

Ray K, Baldwin V J, Acland G M, Aguirre G D

Abstract excerpt

Rod-cone dysplasia type 1 (rcd1) is one of several canine photoreceptor degenerations, collectively termed progressive retinal atrophy (PRA), that afflict different breeds of dogs. The rcd1 phenotype is an early onset autosomal recessive disease caused by a nonsense amber mutation, at codon 807, in the canine gene for the beta-subunit of rod cyclic GMP phosphodiesterase (canine PDEB). The mutation involves a G to...

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PMID: 7796608
DOI: 10.3109/02713689509033521

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Molecular diagnostic tests for ascertainment of genotype at the rod cone dysplasia 1 (rcd1) locus in Irish setters.PMID 7796608Read ↗

An improved diagnostic test for rod cone dysplasia 1 (rcd1) using allele-specific polymerase chain reaction.Semantic proximity Read ↗

Cosegregation of codon 807 mutation of the canine rod cGMP phosphodiesterase beta gene and rcd1.Semantic proximity Read ↗

Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene.Semantic proximity Read ↗

Incidence of the gene mutation causal for rod-cone dysplasia type 1 in Irish setters in the UK.Semantic proximity Read ↗

Frequency of the codon 807 mutation in the cGMP phosphodiesterase beta-subunit gene in Irish setters and other dog breeds with hereditary retinal degeneration.Semantic proximity Read ↗

Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71.Semantic proximity Read ↗

IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds.Semantic proximity Read ↗

Genome-wide association study in RPGRIP1(-/-) dogs identifies a modifier locus that determines the onset of retinal degeneration.Semantic proximity Read ↗

Exclusion of RPGRIP1 ins44 from primary causal association with early-onset cone-rod dystrophy in dogs.Semantic proximity Read ↗

Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation.Semantic proximity Read ↗

Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3.Semantic proximity Read ↗

Familial non-rcd1 generalised retinal degeneration in Irish setters.Semantic proximity Read ↗

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