{"topic_id":"companion_breed_health_thoroughbred_horse_omia4086_horse","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_thoroughbred_horse_omia4086_horse\ncategory: companion-breed-health\ntitle: \"Thoroughbred (Horse) — Coat colour, Leopard Complex Spotting (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/thoroughbred_horse_omia4086_4086.txt\ndate_parsed: 2026-08-23\ntokens_estimated: 161\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_thoroughbred_horse_omia4086_horse/01_companion_breed_health_thoroughbred_horse_omia4086_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: \"Thoroughbred (Horse) — Coat colour, Leopard Complex Spotting (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002139/9796/\"\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# Thoroughbred (Horse) — Coat colour, Leopard Complex Spotting (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: Thoroughbred (Horse)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal incomplete dominant`\n- `Summary: As summarised by Bellone et al. (2013): Leopard complex spotting is a group of white spotting patterns in horses caused by an incompletely dominant gene (LP) . . . homozygotes (LP/LP) are also affected with congenital stationary night blindness. Thus, a single mutation is autosomal incompletely dominant for Leopard Complex/Appaloosa and autosomal recessive for stationary congenital night blindness (a href=https://omia.org/OMIA001341/OMIA:001341-9796/a).`\n- `Defect: yes`\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 4161661 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Bellone et al. (2013) reported that a retroviral insertion in TRMP1 was complete associated with Leopard spotting in 511 horses from a range of breeds.\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- 1990. The Inheritance of the Leopard Complex of Spotting Patterns  in Horses. J Hered — PubMed:PMID2177073 | DOI:10.1093/oxfordjournals.jhered.a110997 — OMIA Phene_Article / Article\n- 2004. Assignment of the appaloosa coat colour gene (LP) to equine chromosome 1. Anim Genet — PubMed:PMID15025575 | DOI:10.1111/j.1365-2052.2004.01113.x — OMIA Phene_Article / Article\n- 2007. Clinical and electroretinographic characteristics of congenital stationary night blindness in the Appaloosa and the association with the leopard complex. Vet Ophthalmol — PubMed:PMID17970998 | DOI:10.1111/j.1463-5224.2007.00572.x — OMIA Phene_Article / Article\n- 2010. Fine-mapping and mutation analysis of TRPM1: a candidate gene for leopard complex (LP) spotting and congenital stationary night blindness in horses. Brief Funct Genomic Proteomic — PubMed:PMID20353955 | DOI:10.1093/bfgp/elq002 — OMIA Phene_Article / Article\n- 2012. Congenital stationary night blindness is associated with the leopard complex in the Miniature Horse. Vet Ophthalmol — PubMed:PMID22051042 | DOI:10.1111/j.1463-5224.2011.00903.x — OMIA Phene_Article / Article\n- 2013. Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse. PLoS One — PubMed:PMID24167615 | DOI:10.1371/journal.pone.0078280 — OMIA Phene_Article / Article\n- 2016. Variant in the RFWD3 gene associated with PATN1, a modifier of leopard complex spotting. Anim Genet — PubMed:PMID26568529 | DOI:10.1111/age.12375 — OMIA Phene_Article / Article\n- 2017. Phenotypic and genetic analysis of the leopard complex spotting in Noriker horses. J Hered — PubMed:PMID28453641 | DOI:10.1093/jhered/esx039 — OMIA Phene_Article / Article\n- 2015. Twenty-five thousand years of fluctuating selection on leopard complex spotting and congenital night blindness in horses. Philos Trans R Soc Lond B Biol Sci — PubMed:PMID25487337 | DOI:10.1098/rstb.2013.0386 — OMIA Phene_Article / Article\n- 2019. Analysis of ROH patterns in the Noriker horse breed reveals signatures of selection for coat color and body size. Anim Genet — PubMed:PMID31199540 | DOI:10.1111/age.12797 — OMIA Phene_Article / Article\n- 2021. Review: Balancing selection for deleterious alleles in livestock. Front Genet — PubMed:PMID34925454 | DOI:10.3389/fgene.2021.761728 — 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:613216 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:603576 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n","sources":["companion-breed-health — Thoroughbred (Horse) — Coat colour, Leopard Complex Spotting (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Thoroughbred (Horse) — Coat colour, Leopard Complex Spotting (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/2177073/","retrieved":"","ref":"PMID 2177073","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":1007,"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."}