--- license: permission_granted topic_id: companion_breed_health_labrador_retriever_omia6271_dog category: companion-breed-health title: "Labrador Retriever — Retinal atrophy, progressive, GTPBP2-related (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/labrador_retriever_omia6271_6271.txt date_parsed: 2026-08-02 tokens_estimated: 125 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_labrador_retriever_omia6271_dog/01_companion_breed_health_labrador_retriever_omia6271_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Labrador Retriever — Retinal atrophy, progressive, GTPBP2-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002926/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false
Labrador Retriever — Retinal atrophy, progressive, GTPBP2-related (hereditary; OMIA-verified breed predisposition)
Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Breed: Labrador Retriever (Dog)Disorder:Mode of inheritance: Autosomal recessiveClin feat: Murgiano et al. (2025) report 3 affected Labrador retrievers from the same litter with progressive retinal atrophy with onset of clinical signs between 7 month and 1.5 years. Two of the dogs developed Addison’s disease .... ; one of these later developed diabetes mellitus and died from a hypoglycemic event.Defect: yes
Associated gene(s)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- Gene: Entrez Gene ID 398298983 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Murgiano et al. (2025): "Homozygosity mapping and whole-genome sequencing [of 2 affected Labrador retrievers and their unaffected parents] detected a homozygous 3-bp deletion in the coding region of GTPBP2, located in CFA12 (NC_049233.1:12,264,348_12,264,350del, c.1606_1608del, p.Ala536del)."
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- 2025. GTPBP2 in-frame deletion in canine model with non-syndromic progressive retinal atrophy. Sci Rep — PubMed:PMID39971978 | DOI:10.1038/s41598-025-89446-7 — OMIA Phene_Article / Article
Comparative medicine (human OMIM)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- OMIM:617988 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:607434 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."