{"topic_id":"companion_breed_health_shetland_pony_horse_omia4201_horse","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_shetland_pony_horse_omia4201_horse\ncategory: companion-breed-health\ntitle: \"Shetland Pony (Horse) — Coat colour, phaeomelanin dilution, MFSD12-related (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/shetland_pony_horse_omia4201_4201.txt\ndate_parsed: 2026-08-23\ntokens_estimated: 84\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_shetland_pony_horse_omia4201_horse/01_companion_breed_health_shetland_pony_horse_omia4201_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: \"Shetland Pony (Horse) — Coat colour, phaeomelanin dilution, MFSD12-related (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002197/9796/\"\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# Shetland Pony (Horse) — Coat colour, phaeomelanin dilution, MFSD12-related (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: Shetland Pony (Horse)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Summary: Tanaka et al. (2019): Mushroom is a unique coat color phenotype in Shetland Ponies characterized by the dilution of the chestnut coat color to a sepia tone.`\n- `Defect: no`\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 398298778 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Tanaka et al. (2019) provided evidence supporting a frameshift mutation (p.Asp201fs) in the MFSD12 gene as being a likely causal variant for the mushroom coat colour: \"This variant was perfectly concordant with phenotype in 96 Shetland Ponies (P = 1.15 × 10-22), was identified in the closely related Miniature Horse for which the mushroom phenotype is suspected to occur (fmu = 0.02), and was absent…\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- 2019. A frameshift variant in MFSD12 explains the mushroom coat Color dilution in Shetland Ponies. PAG XXVII — OMIA Phene_Article / Article\n- 2019. Frameshift variant in MFSD12 explains the mushroom coat color dilution in Shetland Ponies. Genes (Basel) — PubMed:PMID31635058 | DOI:10.3390/genes10100826 — 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:617745 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n","sources":["companion-breed-health — Shetland Pony (Horse) — Coat colour, phaeomelanin dilution, MFSD12-related (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Shetland Pony (Horse) — Coat colour, phaeomelanin dilution, MFSD12-related (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/31635058/","retrieved":"","ref":"PMID 31635058","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":616,"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."}