Border Collie — Autosomal dominant centronuclear myopathy (hereditary; OMIA-verified breed predisposition)

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 myopathy
• Mode of inheritance: Autosomal dominant
• Summary: 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."