{"topic_id":"companion_breed_health_noric_horse_omia2497_horse","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_noric_horse_omia2497_horse\ncategory: companion-breed-health\ntitle: \"Noric (Horse) — Coat colour, roan (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 2026-08-23 from local OMIA database dump.\"\nsource_file: pdf-raw/breed-health/noric_horse_omia2497_2497.txt\ndate_parsed: 2026-08-23\ntokens_estimated: 132\nverification:\n  method: substring_match\n  claims: 5\n  passed: 5\n  date: 2026-08-23\nrecovered: false\npath: companion-breed-health/companion_breed_health_noric_horse_omia2497_horse/01_companion_breed_health_noric_horse_omia2497_horse.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: \"Noric (Horse) — Coat colour, roan (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA001216/9796/\"\n  retrieved: \"2026-08-23\"\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\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\n# Noric (Horse) — Coat colour, roan (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: Noric (Horse)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal`\n- `Defect: no`\n- `Prevalence: Grizl-Seger et al. (2020): The G -allele of the top associated SNP was present in other roan horses, namely Quarter Horse, Murgese, Slovenian, and Belgian draught horse, while it was absent in a panel of 15 breeds, including 657 non-roan horses. In further 379 gray Lipizzan horses, eight animals exhibited a heterozygous genotype (A/G).`\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: c-kit (Entrez Gene ID 5430480) — OMIA Phene_Gene / GeneSynonym\n- OMIA molecular-genetics note: Building on the results of work showing that dominant white coat colour in pigs is due to a mutation at the KIT gene (see OMIA 000209), Marklund (1997) reported very strong evidence that the KIT gene in horses is the gene for roan coat colour: a linkage study revealed zero recombinantion between Roan and KIT, and a 79 bp insertion between exons 1 and 2 of the KIT gene, creating a frameshift mutati…\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- 1982. A linkage group composed of 3 coat colour genes and 3 serum protein loci in horses. Journal of Heredity — PubMed:PMID7096983 — OMIA Phene_Article / Article\n- 1994. Parentage Testing and Linkage Analysis in the Horse Using a  Set of Highly Polymorphic Microsatellites. Animal Genetics — PubMed:PMID8161016 — OMIA Phene_Article / Article\n- 1999. Close association between sequence polymorphism in the KIT gene and the roan coat color in horses. Mammalian Genome — PubMed:PMID10051325 — OMIA Phene_Article / Article\n- 2009. Molecular tests for coat colours in horses. J Anim Breed Genet — PubMed:PMID19912415 | DOI:10.1111/j.1439-0388.2009.00832.x — OMIA Phene_Article / Article\n- 1984. Direct evidence for linkage of roan and extension loci in Belgian horses. J Hered — PubMed:PMID6481131 — OMIA Phene_Article / Article\n- 1979. Lethal dominant roan in horses. Journal of Heredity — OMIA Phene_Article / Article\n- 2017. Equine Color Genetics, 4th Edition. Wiley-Blackwell, Hoboken, NJ — OMIA Phene_Article / Article\n- 2020. A genome-wide association analysis in Noriker horses identifies a SNP associated with roan coat color. J Equine Vet Sci — PubMed:PMID32303326 | DOI:10.1016/j.jevs.2020.102950 — OMIA Phene_Article / Article\n- 2020. Coat Color Roan Shows Association with <i>KIT</i> Variants and No Evidence of Lethality in Icelandic Horses. Genes (Basel) — PubMed:PMID32580410 | DOI:10.3390/genes11060680 — OMIA Phene_Article / Article\n- 2022. Roan coat color in livestock. Anim Genet — PubMed:PMID35811453 | DOI:10.1111/age.13240 — OMIA Phene_Article / Article\n- 2024. Predicted genetic burden and frequency of phenotype-associated variants in the horse. Sci Rep — PubMed:PMID38600096 | DOI:10.1038/s41598-024-57872-8 — OMIA Phene_Article / Article\n- 2024. Spotting the pattern: A review on white coat color in the domestic horse. Animals (Basel) — PubMed:PMID38338094 | DOI:10.3390/ani14030451 — OMIA Phene_Article / Article\n- (2 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:184745 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:611664 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n","sources":["companion-breed-health — Noric (Horse) — Coat colour, roan (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Noric (Horse) — Coat colour, roan (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/7096983/","retrieved":"","ref":"PMID 7096983","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":968,"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."}