--- license: permission_granted topic_id: companion_breed_health_border_collie_autosomal_dominant_centronuclear_myopathy_dog category: companion-breed-health title: "Border Collie — Autosomal dominant centronuclear myopathy (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/border_collie_autosomal_dominant_centronuclear_myopathy_4936.txt date_parsed: 2026-08-02 tokens_estimated: 80 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_border_collie_autosomal_dominant_centronuclear_myopathy_dog/01_companion_breed_health_border_collie_autosomal_dominant_centronuclear_myopathy_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: "Border Collie — Autosomal dominant centronuclear myopathy (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002534/9615/" 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
Border Collie — Autosomal dominant centronuclear myopathy (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: Border Collie (Dog)Disorder: Autosomal dominant centronuclear myopathyMode of inheritance: Autosomal dominantSummary: Böhm et al. (2022) proposed that affected dogs be called DNM2-CNM dogs.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 388251079 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: By sequencing functional candidate genes in an affected Border Collie, Böhm et al. (2022) discovered that this dog was heterozygous for a missense mutation in the DNM2 gene. The likely causal variant (c.1393C>T; R465W) happens to be the same as the most common causal variant in this gene in humans.
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.
- 2022. A dog model for centronuclear myopathy (CNM) carrying the most common DNM2 mutation. Dis Model Mech — PubMed:PMID35244154 | DOI:10.1242/dmm.049219 — OMIA Phene_Article / Article
- 2012. Centronuclear myopathy in a Border collie dog. J Small Anim Pract — PubMed:PMID23013377 | DOI:10.1111/j.1748-5827.2012.01265.x — OMIA Phene_Article / Article
- 2014. Identification of the mutation causing centronuclear myopathy in a border collie. Vet Rec — PubMed:PMID25081885 | DOI:10.1136/vr.g4883 — 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:160150 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:602378 (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."