--- license: permission_granted topic_id: companion_breed_health_basenji_omia3638_dog category: companion-breed-health title: "Basenji — Retinal atrophy, progressive, SAG-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/basenji_omia3638_3638.txt date_parsed: 2026-08-02 tokens_estimated: 225 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_basenji_omia3638_dog/01_companion_breed_health_basenji_omia3638_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: "Basenji — Retinal atrophy, progressive, SAG-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001876/9615/" 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
Basenji — Retinal atrophy, progressive, SAG-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: Basenji (Dog)Disorder:Mode of inheritance: Autosomal recessiveClin feat: While there are multiple types of progressive retinal atrophy (PRA), Basenjis generally obtain late onset PRA (Goldstein et al., 2013). Initially, affected individuals lose their vision in dim light and lose their peripheral visual field, resulting in tunnel vision. Many individuals can maintain forward day vision for years as disease progresses (Goldstein et al., 2013). Retinal thinning (stage I) can typically be detected at five years old, and reduced blood flow through retinal vasculature (stage II) is normally detected around seven years of age (Goldstein et al., 2013). IT thanks DVM student Maya Yaffe, who provided the basis of this contribution in May 2023.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: ARR (Entrez Gene ID 403906) — OMIA Phene_Gene / GeneSynonym
- OMIA molecular-genetics note: Sequencing of the two candidate genes in this region led Goldstein et al. (2013) to the discovery of the causal mutation as a stop-loss or extensionl base substitution in the SAG gene (encoding S-antigen): a "tyrosine to cysteine transition mutation at position CFA25:47,845,680 (c.1216T>C . . .) that changed the normal stop codon to code for the amino acid arginine, which would result in a dedu…
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.
- 2006. Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rod-cone degeneration interval and identifies ancestral disease-transmitting chromosome. Genomics — PubMed:PMID16859891 | DOI:10.1016/j.ygeno.2006.05.013 — OMIA Phene_Article / Article
- 2013. A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs. Mol Vis — PubMed:PMID24019744 — OMIA Phene_Article / Article
- 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article
- 1974. Canine progressive retinal atrophy. Occurrence by age, breed and sex. Am J Vet Res — OMIA Phene_Article / Article
- 2023. Genotypic and allelic frequencies of progressive rod-cone degeneration and other main variants associated with progressive retinal atrophy in Italian dogs. Vet Rec Open — PubMed:PMID38028226 | DOI:10.1002/vro2.77 — OMIA Phene_Article / Article
- 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — 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:258100 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:613758 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:181031 (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."