{"topic_id":"companion_breed_health_purebred_spanish_horse_splashed_white_horse","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_purebred_spanish_horse_splashed_white_horse\ncategory: companion-breed-health\ntitle: \"Purebred Spanish (Horse) — splashed white (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/purebred_spanish_horse_splashed_white_3342.txt\ndate_parsed: 2026-08-23\ntokens_estimated: 330\nverification:\n  method: substring_match\n  claims: 7\n  passed: 7\n  date: 2026-08-23\nrecovered: false\npath: companion-breed-health/companion_breed_health_purebred_spanish_horse_splashed_white_horse/01_companion_breed_health_purebred_spanish_horse_splashed_white_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: \"Purebred Spanish (Horse) — splashed white (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA001688/9796/\"\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# Purebred Spanish (Horse) — splashed white (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: Purebred Spanish (Horse)`\n- `Disorder: splashed white`\n- `Mode of inheritance: Autosomal incomplete dominant`\n- `Summary: Currently (in 2016), the horse is among domesticated animals the species with the highest number of known genetic variants that lead to white spotting phenotypes. Related coat colour phenotypes are caused by variants in the EDNRB, KIT, MITF, PAX3 and TRPM1 genes. Combinations of multiple variants in these gene can lead to more pronounced coat colour phenotypes. The splashed white phenotype may be caused by variants in the PAX3 gene as outlined below. However, by far the most common causative varaint for the splashed white phenotype is a non-coding regulatory promoter variant in the MITF gene.`\n- `Clin feat: Magdesian et al. 2009 demonstrated an increased risk for deafness in horses with the splashed white and/or frame overo spotting phenotype. Hauswirth et al. 2012 reported that Some, but not all, splashed white horses are deaf.`\n- `Defect: yes`\n- `Prevalence: Druml et al. (2018) reported that besides Quarter Horses, the PAX3^C70Y [SW2] allele is also present in Noriker (seven out of 189) and Lipizzan (three out of 329) horses and that of 10 heterozygous PAX3^C70Y-carrier horses, two had nearly a splashed white phenotype.`\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 210342596 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Hauswirth et al. (2012) reported three independent variants causing the splashed white phenotype, two of them in the MITF gene and one in the PAX3 gene: A missense variant in the PAX3 gene [omia.variant:791] (c.209G&gt;A; p.C70Y; \"SW2\") was identified in Quarter Horses and American Paint Horses. Druml et al. (2018) demonstrated that the PAX3^C70Y allele also segregates in Noriker and Lippizan hors…\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- 2009. Evaluation of deafness in American Paint Horses by phenotype, brainstem auditory-evoked responses, and endothelin receptor B genotype. J Am Vet Med Assoc — PubMed:PMID19912043 | DOI:10.2460/javma.235.10.1204 — OMIA Phene_Article / Article\n- 2012. Mutations in MITF and PAX3 cause \"splashed white\" and other white spotting phenotypes in horses. PLoS Genet — PubMed:PMID22511888 | DOI:10.1371/journal.pgen.1002653 — OMIA Phene_Article / Article\n- 2013. Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes. Anim Genet — PubMed:PMID23659293 | DOI:10.1111/age.12057 — OMIA Phene_Article / Article\n- 2017. A novel MITF variant in a white American Standardbred foal. Anim Genet — PubMed:PMID27592871 | DOI:10.1111/age.12484 — OMIA Phene_Article / Article\n- 2017. Association analysis of KIT, MITF, and PAX3 variants with white markings in Spanish horses. Anim Genet — PubMed:PMID28084638 | DOI:10.1111/age.12528 — OMIA Phene_Article / Article\n- 2018. Novel insights into Sabino1 and splashed white coat color patterns in horses. Anim Genet — PubMed:PMID29635692 | DOI:10.1111/age.12657 — OMIA Phene_Article / Article\n- 2019. Correction: Mutations in MITF and PAX3 cause \"Splashed White\" and other white spotting phenotypes in horses. PLoS Genet — PubMed:PMID31374075 | DOI:10.1371/journal.pgen.1008321 — OMIA Phene_Article / Article\n- 2023. Two novel variants in MITF and PAX3 associated with splashed white phenotypes in horses. J Equine Vet Sci — PubMed:PMID37406837 | DOI:10.1016/j.jevs.2023.104875 — OMIA Phene_Article / Article\n- 2023. Digital phenotyping reveals phenotype diversity and epistasis among white spotting alleles in the American Paint horse. Genes (Basel) — PubMed:PMID38002953 | DOI:10.3390/genes14112011 — 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\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:193500 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:148820 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:606597 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n","sources":["companion-breed-health — Purebred Spanish (Horse) — splashed white (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Purebred Spanish (Horse) — splashed white (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/19912043/","retrieved":"","ref":"PMID 19912043","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":1153,"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."}