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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,...

Topics

3',5'-Cyclic-GMP Phosphodiesterases
Animals
Base Sequence
DNA Mutational Analysis
DNA Primers
Dog Diseases
Dogs
Genotype
Molecular Biology
Molecular Sequence Data
Photoreceptor Cells
Point Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymerase Chain Reaction

Retinal Degeneration

Source

Identifiers

PMID: 7796608
DOI: 10.3109/02713689509033521

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7796608-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 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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