--- license: permission_granted topic_id: companion_breed_health_working_kelpie_omia5077_dog category: companion-breed-health title: "Working Kelpie — Cerebellar abiotrophy, VMP1-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/working_kelpie_omia5077_5077.txt date_parsed: 2026-08-02 tokens_estimated: 676 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_working_kelpie_omia5077_dog/01_companion_breed_health_working_kelpie_omia5077_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: "Working Kelpie — Cerebellar abiotrophy, VMP1-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002602/9615/" 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
Working Kelpie — Cerebellar abiotrophy, VMP1-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: Working Kelpie (Dog)Disorder:Mode of inheritance: Autosomal recessiveSummary: Cerebellar abiotropy has been first described in Australian kelpies by Thomas and Robertson in 1989. Wade et al. (2022) identified two distinct clinical and pathological features of CA in Australian working kelpies. These were associated with two separate genomic regions ... An early-onset CA form is observable within a few weeks of birth and in some cases is seen within days of birth. This form affects dogs that are homozygous for a risk marker on CFA20 [see 'OMIA 000175-9615 : Cerebellar abiotrophy in Canis lupus familiaris']. A second region of association, identified on CFA9, is associated with a later-onset form of CA [described in this OMIA entry] that is not usually diagnosed until the dogs are 4–6 months or older.Clin feat: Clinical presentation in the two forms of CA in Australian Kelpies mainly differ in regard to onset of clinical signs. The form with later onset of disease at 4-6 month of age is associated with the VMP1 variant (Wade et al., 2022). Clinical signs include ataxia, wide-based stance, head tremors/intention tremor, dysmetria/incoordination, hypermetria/high-stepping gate, decreased limb proprioception (particularly hind limbs), and/or body tremors when excited. The condition is non-painful and does not affect the dog’s normal mentation or alertness. More severe forms can include fitting/grand mal seizures when overheated or excited. The condition may present mildly with only occasional periods of incoordination and no progression to more severe forms. Commonly, it will present with signs that become more obvious or progress as the animal ages (Thomas and Robertson, 1989; Shearman et al., 2008; Shearman et al., 2011; Pan et al., 2017; Wade et al., 2022). IT thanks DVM student Beatrice Humphries, who provided the basis of this contribution in May 2023.Defect: yesPathology: Wade et al. (2022) Histopathology shows that affected animals regardless of age of onset exhibit granule cell loss, regional Purkinje cell loss and activated astrocytes. However, the histopathological features are distinct between animals affected with the early-onset disease associated with homozygosity at CFA20 and those affected with the later-onset disease that were homozygous at CFA9. The early-onset group (CFA20) demonstrate abnormality of foliar development in the cerebellar cortex, and a relatively reduced molecular layer (ML). Dogs that were homozygous for the CFA9 locus had normal foliar development, later disorder onset, and demonstrated axonal spheroids in their white matter tracts.
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: TMEM49 (Entrez Gene ID 388255333) — OMIA Phene_Gene / GeneSynonym
- OMIA molecular-genetics note: Wade et al. (2022): "one dog exhibiting symptoms of CA, its dam, and a sib without symptoms at the time of observation ... were subjected to whole-genome sequencing (WGS) on the Illumina HiSeq 2500 platform ... . A further five whole genome sequences from unrelated healthy AWK were obtained by collaboration ... . ... The most associated array marker: BICF2G630835610 CFA9:32,949,504G>A, (pgenome 5.…
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.
- 2008. Elimination of SETX, SYNE1 and ATCAY as the cause of cerebellar abiotrophy in Australian Kelpies. Anim Genet — PubMed:PMID18557972 | DOI:10.1111/j.1365-2052.2008.01753.x — OMIA Phene_Article / Article
- 1989. Hereditary cerebellar abiotrophy in Australian kelpie dogs. Aust Vet J — PubMed:PMID2818374 — OMIA Phene_Article / Article
- 2011. Mapping cerebellar abiotrophy in Australian Kelpies. Anim Genet — PubMed:PMID22035013 | DOI:10.1111/j.1365-2052.2011.02199.x — OMIA Phene_Article / Article
- 2017. Exclusion of known gene loci for cerebellar abiotrophy in the Australian Working Kelpie. Anim Genet — PubMed:PMID28850678 | DOI:10.1111/age.12594 — OMIA Phene_Article / Article
- 2022. Cerebellar abiotrophy in Australian Working Kelpies is associated with two major risk loci. Genes (Basel) — PubMed:PMID36292596 | DOI:10.3390/genes13101709 — 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:611753 (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."