{"topic_id":"companion_breed_health_chakouyi_china_horse_omia3380_horse","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_chakouyi_china_horse_omia3380_horse\ncategory: companion-breed-health\ntitle: \"Chakouyi, China (Horse) — Gaitedness, DMRT3-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/chakouyi_china_horse_omia3380_3380.txt\ndate_parsed: 2026-08-23\ntokens_estimated: 259\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_chakouyi_china_horse_omia3380_horse/01_companion_breed_health_chakouyi_china_horse_omia3380_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: \"Chakouyi, China (Horse) — Gaitedness, DMRT3-related (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA001715/9796/\"\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# Chakouyi, China (Horse) — Gaitedness, DMRT3-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: Chakouyi, China (Horse)`\n- `Disorder: `\n- `Mode of inheritance: Sigurðardóttir et al. (2023) provided convincing evidence of the multifactorial nature of gaitedness. However, this entry focuses on variation in gaitedness due to DMRT3 variants and is therefore listed as single locus related in horses.`\n- `Defect: no`\n- `Prevalence: Promerová et al. (2014) genotyped 4396 horses representing 141 horse breeds for the DMRT3 stop mutation. More than half (2749) of these horses also were genotyped for a SNP situated 32 kb upstream of the DMRT3 nonsense mutation because these two SNPs are in very strong linkage disequilibrium. We show that the DMRT3 mutation is present in 68 of the 141 genotyped horse breeds at a frequency ranging from 1% to 100%. We also show that the mutation is not limited to a geographical area, but is found worldwide. The breeds with a high frequency of the stop mutation (gt;50%) are either classified as gaited or bred for harness racing.`\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: DMRT3 (Entrez Gene ID 366703877) — OMIA Phene_Gene / GeneSynonym\n- OMIA molecular-genetics note: From a genome scan of 70 Icelandic horses (40 that can pace and 30 that can't pace), Andersson et al. (2012) identified a 684kb region of chromosome ECA23 showing a very strong association with ability to pace. Resequencing within this region eventually identified the causative mutation as a nonsense mutation (Ser301STOP) in DMRT3 (previously listed as LOC100147177 in NCBI), which encodes a transc…\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- 2012. Mutations in DMRT3 affect locomotion in horses and spinal circuit function in mice. Nature — PubMed:PMID22932389 | DOI:10.1038/nature11399 — OMIA Phene_Article / Article\n- 1987. Genetic differentiation associated with gait within American standardbred horses. Anim Genet — PubMed:PMID3481678 | DOI:10.1111/j.1365-2052.1987.tb00772.x — OMIA Phene_Article / Article\n- 2013. Genome-wide analysis reveals selection for important traits in domestic horse breeds. PLoS Genet — PubMed:PMID23349635 | DOI:10.1371/journal.pgen.1003211 — OMIA Phene_Article / Article\n- 1907. Trotting and pacing: dominant and recessive?. Science — OMIA Phene_Article / Article\n- 2014. Worldwide frequency distribution of the 'Gait keeper' mutation in the DMRT3 gene. Anim Genet — PubMed:PMID24444049 | DOI:10.1111/age.12120 — OMIA Phene_Article / Article\n- 2015. The DMRT3 gene mutation in Chinese horse breeds. Anim Genet — PubMed:PMID25917306 | DOI:10.1111/age.12292 — OMIA Phene_Article / Article\n- 2015. DMRT3 is associated with gait type in Mangalarga Marchador horses, but does not control gait ability. Anim Genet — PubMed:PMID25690906 | DOI:10.1111/age.12273 — OMIA Phene_Article / Article\n- 2014. The DMRT3 'Gait keeper' mutation affects performance of Nordic and Standardbred trotters. J Anim Sci — PubMed:PMID25085403 | DOI:10.2527/jas.2014-7803 — OMIA Phene_Article / Article\n- 2015. Different DMRT3 Genotypes Are Best Adapted for Harness Racing and Riding in Finnhorses. J Hered — PubMed:PMID26285915 | DOI:10.1093/jhered/esv062 — OMIA Phene_Article / Article\n- 2016. Rare phenotypes in domestic animals: unique resources for multiple applications. Anim Genet — PubMed:PMID26662214 | DOI:10.1111/age.12393 — OMIA Phene_Article / Article\n- 2016. The origin of ambling horses. Curr Biol — PubMed:PMID27505236 | DOI:10.1016/j.cub.2016.07.001 — OMIA Phene_Article / Article\n- 2016. Comparison of DMRT3 genotypes among American Saddlebred horses with reference to gait. Anim Genet — PubMed:PMID27295976 | DOI:10.1111/age.12458 — OMIA Phene_Article / Article\n- (23 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:614754 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n","sources":["companion-breed-health — Chakouyi, China (Horse) — Gaitedness, DMRT3-related (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Chakouyi, China (Horse) — Gaitedness, DMRT3-related (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/22932389/","retrieved":"","ref":"PMID 22932389","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":1055,"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."}