{"topic_id":"companion_breed_health_trakehner_horse_splashed_white_macchiato_horse","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_trakehner_horse_splashed_white_macchiato_horse\ncategory: companion-breed-health\ntitle: \"Trakehner (Horse) — Splashed white, macchiato (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/trakehner_horse_splashed_white_macchiato_3341.txt\ndate_parsed: 2026-08-23\ntokens_estimated: 448\nverification:\n  method: substring_match\n  claims: 6\n  passed: 6\n  date: 2026-08-23\nrecovered: false\npath: companion-breed-health/companion_breed_health_trakehner_horse_splashed_white_macchiato_horse/01_companion_breed_health_trakehner_horse_splashed_white_macchiato_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: \"Trakehner (Horse) — Splashed white, macchiato (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA000214/9796/\"\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# Trakehner (Horse) — Splashed white, macchiato (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: Trakehner (Horse)`\n- `Disorder: Splashed white, macchiato`\n- `Mode of inheritance: Autosomal incomplete dominant`\n- `Summary: Currently (in 2016), among domesticated animals the horse is 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 TPRM1 genes. Combinations of multiple variants in these gene can lead to more pronounced coat colour phenotypes. Variants in MITF can lead to a variable degree of white spotting. The splashed white phenotype in horses is most frequently due to variants in the MITF gene, but may also be caused by variants in the PAX3 gene. As described by Hauswirth et al. (2012), The “splashed white” pattern is primarily characterized by an extremely large blaze, often accompanied by extended white markings at the distal limbs and blue eyes. Some, but not all, splashed white horses are deaf. For variants in the KIT gene that result in a white spotting phenotype see a href=../../../../../../OMIA000209/9796/OMIA:000209-9796/a : Coat colour, dominant white in Equus caballus.`\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. Horses with the SW1 allele have an increased risk for unilateral and bilateral deafness, but the exact risk is unknown. The risk for deafness and the extent of depigmentation increase, if multiple white increasing alleles occur simultaneously in the same horse (Hauswirth et al. 2012). The macchiato Franches-Montagnes horse carrying the p.Asn210Ser variant was deaf and had low sperm quality (Blatter et al. 2013).`\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 210327737 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Hauswirth et al. (2012) reported a non-coding regulatory 10 bp insertion into the melanocyte-specific promoter of the MITF gene (ECA16:g.20,117,302Tdelins11; \"SW1\"), which disrupts a PAX3 binding site. This allele is apparently several hundred years old and can be found in many different breeds segregating for the splashed white phenotype, such as e.g. American Paint Horses, Icelandic Horses, Mini…\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. Accumulating Mutations in Series of Haplotypes at the KIT and MITF Loci Are Major Determinants of White Markings in Franches-Montagnes Horses. PLoS One — PubMed:PMID24098679 | DOI:10.1371/journal.pone.0075071 — 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- 2013. [Clinical evaluation of the new coat colour macchiato in a male Franches-Montagnes horse]. Schweiz Arch Tierheilkd — PubMed:PMID23531944 | DOI:10.1024/0036-7281/a000451 — 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- 2019. Whole-genome sequencing reveals a large deletion in the MITF gene in horses with white spotted coat colour and increased risk of deafness. Anim Genet — PubMed:PMID30644113 | DOI:10.1111/age.12762 — OMIA Phene_Article / Article\n- 2020. A de novo MITF deletion explains a novel splashed white phenotype in an American paint horse. J Hered — PubMed:PMID32242630 | DOI:10.1093/jhered/esaa009 — OMIA Phene_Article / Article\n- 2022. Non-frameshift deletion on MITF is associated with a novel splashed white spotting pattern in horses (Equus caballus). Anim Genet — PubMed:PMID35672910 | DOI:10.1111/age.13225 — 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. A de novo 2.3 kb structural variant in MITF explains a novel splashed white phenotype in a Thoroughbred family. Anim Genet — PubMed:PMID37697831 | DOI:10.1111/age.13352 — 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- (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:193510 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:103500 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:156845 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n","sources":["companion-breed-health — Trakehner (Horse) — Splashed white, macchiato (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Trakehner (Horse) — Splashed white, macchiato (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":1316,"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."}