{"topic_id":"companion_breed_health_siberian_husky_omia1500_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_siberian_husky_omia1500_dog\ncategory: companion-breed-health\ntitle: \"Siberian Husky — Retinal atrophy, progressive, X-linked, type 1 (hereditary; OMIA-verified breed predisposition)\"\nlang: en\nsource: \"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.\"\nsource_file: pdf-raw/breed-health/siberian_husky_omia1500_1500.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 433\nverification:\n  method: substring_match\n  claims: 6\n  passed: 6\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_siberian_husky_omia1500_dog/01_companion_breed_health_siberian_husky_omia1500_dog.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n  authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n  title: \"Siberian Husky — Retinal atrophy, progressive, X-linked, type 1 (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA000831/9615/\"\n  retrieved: \"2026-08-02\"\n  ref: \"OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n  doc_type: \"academic animal-genetics database (breed-specific disorder entries)\"\n  needs_review: false\n\n\n# Siberian Husky — Retinal atrophy, progressive, X-linked, type 1 (hereditary; OMIA-verified breed predisposition)\n\nSource: 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.\n\n## Claims\n\n- `Breed: Siberian Husky (Dog)`\n- `Disorder: `\n- `Mode of inheritance: X-linked`\n- `Summary: The difference between XLPRA1 (this entry) and XLPRA2 (a href=https://omia.org/OMIA001518/9615/OMIA:001518-9615/a) is summarised by Appelbaum et al. (2020) as XLPRA1-affected dogs have normal PR morphogenesis, after which progressive rod–cone degeneration develops in the peripheral retina, gradually advancing toward the optic disc. . . . The phenotype associated with XLPRA2 is very severe and manifests during early retinal development.`\n- `Defect: yes`\n- `Pathology: As summarised by Zeiss et al. (1999): The earliest lesion detectable by electron microscopy was vesiculation of rod discs, followed by disruption of outer segments and death of rods. Loss of cones and progressive atrophy of inner retinal layers followed. Lesions were most severe in the peripheral retina and advanced toward the optic disc with disease progression. Significant variation in disease severity was present in males despite the presence of the same disease allele in all affected dogs. As concluded by the same authors: X-linked retinal degeneration is characterized by initial degeneration of rod photoreceptors, followed by loss of cones and progressive atrophy of the inner retina. Carrier females display a phenotype consistent with random X-chromosome inactivation. Variation in genetic background may alter expression of the disease allele in affected animals, thus accounting for variation in phenotypic expression of the disease.`\n## Associated gene(s)\nDerived 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.\n- Gene: Entrez Gene ID 403726 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Based on a comparative positional cloning approach (the canine disorder maps to a location on the canine X chromosome that is homologous with the location of the same disorder (RP3) in humans, which is due to mutations in the RPGR gene), Zhang et al. (2002) identified a \"five-nucleotide deletion (delGAGAA) between 1028 and 1032\" (omia.variant:480) in the canine RPGR gene as a causal mutation for a…\n\n## Evidence (references)\nDerived 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.\n- 1994. Animal model: XLPRA: A canine retinal degeneration inherited  as an X-linked trait. American Journal of Medical Genetics — PubMed:PMID7977457 | DOI:10.1002/ajmg.1320520106 — OMIA Phene_Article / Article\n- 1999. Retinal pathology of canine X-linked progressive retinal atrophy, the locus homologue of RP3. Investigative Ophthalmology & Visual Science — PubMed:PMID10586956 — OMIA Phene_Article / Article\n- 2000. Mapping of X-linked progressive retinal atrophy (XLPRA), the canine homolog of retinitis pigmentosa 3 (RP3). Human Molecular Genetics — PubMed:PMID10699176 — OMIA Phene_Article / Article\n- 2007. Analysis of six candidate genes as potential modifiers of disease expression in canine XLPRA1, a model for human X-linked retinitis pigmentosa 3. Mol Vis — PubMed:PMID17653054 — OMIA Phene_Article / Article\n- 2002. Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration. Hum Mol Genet — PubMed:PMID11978759 — OMIA Phene_Article / Article\n- 2007. Intravitreal injection of ciliary neurotrophic factor (CNTF) causes peripheral remodeling and does not prevent photoreceptor loss in canine RPGR mutant retina. Exp Eye Res — PubMed:PMID17320077 | DOI:10.1016/j.exer.2006.12.019 — OMIA Phene_Article / Article\n- 2007. Independent origin and restricted distribution of RPGR deletions causing XLPRA. J Hered — PubMed:PMID17646274 | DOI:10.1093/jhered/esm060 — OMIA Phene_Article / Article\n- 2002. Characterization of three microsatellite loci linked to the canine RP3 interval. J Hered — PubMed:PMID12011183 — OMIA Phene_Article / Article\n- 2001. Fine mapping of canine XLPRA establishes homology of the human and canine RP3 intervals. Invest Ophthalmol Vis Sci — PubMed:PMID11581184 — OMIA Phene_Article / Article\n- 2012. Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome — PubMed:PMID22065099 | DOI:10.1007/s00335-011-9361-3 — OMIA Phene_Article / Article\n- 2000. Molecular cloning, characterization and expression of a novel retinal clusterin-like protein cDNA. Gene — PubMed:PMID10675623 — OMIA Phene_Article / Article\n- 2012. Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa. Proc Natl Acad Sci U S A — PubMed:PMID22308428 | DOI:10.1073/pnas.1118847109 — OMIA Phene_Article / Article\n- (16 additional references in OMIA)\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:300029 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:312610 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:304020 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:300834 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:300455 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n","sources":["companion-breed-health — Siberian Husky — Retinal atrophy, progressive, X-linked, type 1 (hereditary; OMIA-verified breed predisposition) (retrieved 2026-08-22)"],"source":{"authority":"companion-breed-health","title":"Siberian Husky — Retinal atrophy, progressive, X-linked, type 1 (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/7977457/","retrieved":"2026-08-22","ref":"PMID 7977457","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":793,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}