Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Animal genetics - 1 Apr 2013

Downs L M, Bell J S, Freeman J, Hartley C, Hayward L J, Mellersh C S

Abstract excerpt

Progressive retinal atrophy (PRA) in dogs is characterised by the degeneration of the photoreceptor cells of the retina, resulting in vision loss and eventually complete blindness. The condition affects more than 100 dog breeds and is known to be genetically heterogeneous between breeds. Around 14 mutations have now been identified that are associated with PRA in around 49 breeds, but for the majority of breeds...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Primers
Share to Dog Diseases
Share to Dogs

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Eye Proteins

Share to Frameshift Mutation

Share to Genetic Loci

Share to Retinal Degeneration

Share to Species Specificity

Source

Identifiers

PMID: 22686255
DOI: 10.1111/j.1365-2052.2012.02379.x

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71.PMID 22686255Read ↗

A CNGB1 Frameshift Mutation in Papillon and Phalène Dogs with Progressive Retinal AtrophySemantic proximity Read ↗

A Frameshift Mutation in Golden Retriever Dogs with Progressive Retinal Atrophy Endorses SLC4A3 as a Candidate Gene for Human Retinal DegenerationsSemantic proximity Read ↗

Identification of the mutation causing progressive retinal atrophy in Old Danish Pointing Dog.Semantic proximity Read ↗

Progressive retinal atrophy in Shetland sheepdog is associated with a mutation in the CNGA1 gene.Semantic proximity Read ↗

CCDC66 frameshift variant associated with a new form of early-onset progressive retinal atrophy in Portuguese Water Dogs.Semantic proximity Read ↗

Elucidating the genetic basis of canine progressive retinal atrophies in several breeds of dogSemantic proximity Read ↗

Gene Panel Screening Across Canine Eye Disorders Highlights Genetic Heterogeneity and the Need for Molecular DiscoveriesSemantic proximity Read ↗

A missense Variant in IFT122 Associated with a Canine Model of Retinitis PigmentosaSemantic proximity Read ↗

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

Genetic screening for PRA-associated mutations in multiple dog breeds shows that PRA is heterogeneous within and between breeds.Semantic proximity Read ↗

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

Increased expression of MERTK is associated with a unique form of canine retinopathy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.