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Quarter Horse (Horse) — Cerebellar abiotrophy (hereditary; OMIA-verified breed predisposition)

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--- license: permission_granted topic_id: companion_breed_health_quarter_horse_horse_omia2313_horse category: companion-breed-health title: "Quarter Horse (Horse) — Cerebellar abiotrophy (hereditary; OMIA-verified breed predisposition)" lang: en source: "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." source_file: pdf-raw/breed-health/quarter_horse_horse_omia2313_2313.txt date_parsed: 2026-08-23 tokens_estimated: 371 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-23 recovered: false path: companion-breed-health/companion_breed_health_quarter_horse_horse_omia2313_horse/01_companion_breed_health_quarter_horse_horse_omia2313_horse.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Quarter Horse (Horse) — Cerebellar abiotrophy (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000175/9796/" retrieved: "2026-08-23" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false

verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" 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."---

Quarter Horse (Horse) — Cerebellar abiotrophy (hereditary; OMIA-verified breed predisposition)

Source: 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.

Claims

  • Breed: Quarter Horse (Horse)
  • Disorder:
  • Mode of inheritance: Autosomal recessive
  • Clin feat: Brault et al. 2011 (Genomics): Cerebellar abiotrophy (CA) is a neurological condition, characterized by post-natal degeneration of Purkinje cells of the cerebellum . . . Symptoms of CA in horses generally appear between six weeks and four months of age and include intention head tremors, ataxia, exaggerated or paddling action of the forelegs, a wide-based stance and a lack of menace response . . . . Affected horses may startle easily and fall, and are often unable to rise from a reclining position”. {slightly modified from text provided by Meredith O’Connell, working under the supervision of Professor E. Bailey}
  • Defect: yes
  • Prevalence: Other than the strong prevalence known in Arabians, “At least one CA carrier was identified in 3 breeds and the frequency of the CA allele calculated: Bashkir Curly Horses (2.8%), Trakehners (0.68%) and Welsh ponies (0.33%). Based on pedigree and haplotype analysis, CA was introduced into these breeds by Arabian ancestry. The Trakehner and Welsh pony carriers were at least half-Arabian, while the Bashkir Curly horses appeared to have had the CA allele introduced by a single Arabian stallion used for developing the breed in the 1960s” (Brault, et al., EVJ, 2011). {text provided by Meredith O’Connell, working under the supervision of Professor E. Bailey}

Associated gene(s)

Derived 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.

  • Gene: Entrez Gene ID 4155602 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
  • Gene: Entrez Gene ID 388943623 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
  • OMIA molecular-genetics note: “The CA region contains four annotated genes, including MUTYH and TOE1, both of which are potential candidate genes. . . . One SNP identified [ECA2:13074277G&gt;A as reported in this paper] was found to be exclusive to the Arabian breed and to be completely concordant with the CA trait, making it an excellent candidate for the CA mutation. This SNP is located in exon 4 of TOE1 but results in a rel…

Evidence (references)

Derived 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.

  • 1973. Cerebellar hypoplasia and degeneration in the young Arab horses: clinical and neuropathological features. Vet Rec — PubMed:PMID4748678 | DOI:10.1136/vr.93.3.62 — OMIA Phene_Article / Article
  • 1974. Cerebellar hypoplasia and degeneration in part Arab horses. Aust Vet J — PubMed:PMID4819469 | DOI:10.1111/j.1751-0813.1974.tb09367.x — OMIA Phene_Article / Article
  • 1995. Cerebellar abiotrophy in pure-bred arabians [German]. Pferdeheilkunde — OMIA Phene_Article / Article
  • 2011. Mapping of equine cerebellar abiotrophy to ECA2 and identification of a potential causative mutation affecting expression of MUTYH. Genomics — PubMed:PMID21126570 | DOI:10.1016/j.ygeno.2010.11.006 — OMIA Phene_Article / Article
  • 1987. Cerebellar abiotrophy. Vet Clin North Am Equine Pract — PubMed:PMID3497695 | DOI:10.1016/s0749-0739(17)30677-6 — OMIA Phene_Article / Article
  • 2006. Purkinje cell apoptosis in arabian horses with cerebellar abiotrophy. J Vet Med A Physiol Pathol Clin Med — PubMed:PMID16901270 | DOI:10.1111/j.1439-0442.2006.00836.x — OMIA Phene_Article / Article
  • 2011. Inheritance of cerebellar abiotrophy in Arabians. Am J Vet Res — PubMed:PMID21728855 | DOI:10.2460/ajvr.72.7.940 — OMIA Phene_Article / Article
  • 2011. The frequency of the equine cerebellar abiotrophy mutation in non-Arabian horse breeds. Equine Vet J — PubMed:PMID21496100 | DOI:10.1111/j.2042-3306.2010.00349.x — OMIA Phene_Article / Article
  • 2013. Morphometric magnetic resonance imaging and genetic testing in cerebellar abiotrophy in Arabian horses. BMC Vet Res — PubMed:PMID23702154 | DOI:10.1186/1746-6148-9-105 — OMIA Phene_Article / Article
  • 2017. Defining Trends in Global Gene Expression in Arabian Horses with Cerebellar Abiotrophy. Cerebellum — PubMed:PMID27709457 | DOI:10.1007/s12311-016-0823-8 — OMIA Phene_Article / Article
  • 2016. First report of cerebellar abiotrophy in an Arabian foal from Argentina. Open Vet J — PubMed:PMID28116251 | DOI:10.4314/ovj.v6i3.17 — OMIA Phene_Article / Article
  • 2014. The carrier prevalence of severe combined immunodeficiency, lavender foal syndrome and cerebellar abiotrophy in Arabian horses in South Africa. Equine Vet J — PubMed:PMID24033554 | DOI:10.1111/evj.12177 — OMIA Phene_Article / Article
  • (11 additional references in OMIA)

Comparative medicine (human OMIM)

Derived 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.

  • OMIM:600224 (type: trait) — OMIA Group_OMIM (via OMIA_ID)

Sources

Quarter Horse (Horse) — Cerebellar abiotrophy (hereditary; OMIA-verified breed predisposition)
companion-breed-healthPMID 4748678

Machine access

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