--- license: permission_granted topic_id: companion_breed_health_finnish_hound_omia3348_dog category: companion-breed-health title: "Finnish Hound — Ataxia, cerebellar, progressive early-onset, SEL1L-related (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 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/finnish_hound_omia3348_3348.txt date_parsed: 2026-08-02 tokens_estimated: 302 verification: method: substring_match claims: 8 passed: 8 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_finnish_hound_omia3348_dog/01_companion_breed_health_finnish_hound_omia3348_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Finnish Hound — Ataxia, cerebellar, progressive early-onset, SEL1L-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001692/9615/" retrieved: "2026-08-02" 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
Finnish Hound — Ataxia, cerebellar, progressive early-onset, SEL1L-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: Finnish Hound (Dog)Disorder:Mode of inheritance: Autosomal recessiveSummary: Ataxia is characterized by uncoordinated movements and represents a relatively non-specific clinical sign. This entry describes an ataxia form that is caused by a genetic variant in the SEL1L gene. Phenotypically related ataxias in dogs may also be caused by variants in more than 30 other genes (Cocostîrc et al. 2023; Stee et al. 2023). Thus, locus heterogeneity for this phenotype must be considered.Clin feat: Neurological examinations on ten affected dogs revealed rapidly progressing generalized cerebellar ataxia, tremors, and failure to thrive. Clinical signs were present by the age of 3 months, and cerebellar shrinkage was detectable through MRI. (Kyöstilä et al. (2012)Defect: yesPathology: Pathological and histological examinations indicated cerebellum-restricted neurodegeneration. Marked loss of Purkinje cells was detected in the cerebellar cortex with secondary changes in other cortical layers. (Kyöstilä et al. (2012)Control: A simple blood test is now available for detecting carriers of the causative mutation.
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 274066165 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Kyöstilä et al. (2012) reported the causative mutation as being a "missense mutation, c.1972T>C; p.Ser658Pro, in a highly conserved protein domain" of the SEL1L gene, whose peptide is a "component of the endoplasmic reticulum (ER)–associated protein degradation (ERAD) machinery". Since mutations in this gene have not previously been reported in any species, this discovery provides a new potenti…
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.
- 2012. A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery. PLoS Genet — PubMed:PMID22719266 | DOI:10.1371/journal.pgen.1002759 — OMIA Phene_Article / Article
- 1971. [Cerebellar ataxia in a Finnish hurrier] Ett fall av cerebellar ataxi hos finsk stövare (Swedish). Suomen Eläinlääkärilehti — OMIA Phene_Article / Article
- 2023. Phenotypic and genetic aspects of hereditary ataxia in dogs. J Vet Intern Med — PubMed:PMID37341581 | DOI:10.1111/jvim.16742 — OMIA Phene_Article / Article
- 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — 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:602329 (type: gene) — 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."