Jack Russell Terrier — Ataxia, SETX-related (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: Jack Russell Terrier (Dog)Disorder:Mode of inheritance: Probably autosomal recessiveClin feat: Shelton et al. (2026) describe an 8-year-old intact male Jack Russell Terrier with a 9-month history of slowly progressive gait disturbances that advanced over 2 years to generalized stiffness without ataxia and severe bilateral hyperflexion of all limbs. ... Complete blood count and serum biochemistry analysis including creatine kinase activity were normal. Electrophysiological examination showed no abnormalities. Muscle biopsy samples collected at a later stage of the disease showed no abnormalities.Defect: yes
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 398299107 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Shelton et al. (2026) report a homozygous frameshift variant in <em>SETX</em> (omia.variant:1902) as likely causal variant for a Jack Russell Terrier with ataxia.
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.
- 2026. Progressive abnormal gait in an adult Jack Russell Terrier with a homozygous frameshift variant in SETX (senataxin). J Vet Intern Med — PubMed:PMID42105303 | DOI:10.1093/jvimsj/aalag085 — OMIA Phene_Article / Article
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:608465 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:602433 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:606002 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
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."