Nova Scotia Duck Tolling Retriever — Cardiomyopathy, dilated, LMNA-related (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_nova_scotia_duck_tolling_retriever_omia5703_dog category: companion-breed-health title: "Nova Scotia Duck Tolling Retriever — Cardiomyopathy, dilated, LMNA-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/nova_scotia_duck_tolling_retriever_omia5703_5703.txt date_parsed: 2026-08-02 tokens_estimated: 185 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_nova_scotia_duck_tolling_retriever_omia5703_dog/01_companion_breed_health_nova_scotia_duck_tolling_retriever_omia5703_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: "Nova Scotia Duck Tolling Retriever — Cardiomyopathy, dilated, LMNA-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002796/9615/" 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

Nova Scotia Duck Tolling Retriever — Cardiomyopathy, dilated, LMNA-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: Nova Scotia Duck Tolling Retriever (Dog)
• Disorder:
• Mode of inheritance: Probably autosomal recessive
• Clin feat: Bannasch et al. (2023): Two 10-month-old sibling Nova Scotia Duck Tolling Retrievers (NSDTR) died acutely with evidence of dilated cardiomyopathy with myocardial fibrosis. Abnormal Rhythm and dilated cardiomyopathy preceded sudden death in two cases. Three other cases presented with sudden death. When available necropsy of four cases showed severe myocardial fibrosis in dogs. All dogs homozygous for the mutant allele exhibited sudden death by 14 months of age. One related heterozygote had sudden death at 5 years of age.
• 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 388247742 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Bannasch et al. (2023): "Whole genome sequencing identified a frameshift deletion in the LMNA gene (NC_049228.1:g.41688530del, NP_001274080:p.(Asp576ThrfsTer124)). ... The frameshift does not introduce a premature stop codon and is predicted to result in a mutant protein with 124 altered amino acids at its C-terminus (34 amino acids longer than the wildtype protein). ... Three retrospectively iden…

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. Sudden death and cardiomyopathy associated with LMNA in the Nova Scotia Duck Tolling Retriever. Proceedings of the UC Davis Student Training in Advanced Research (STAR) Symposium — OMIA Phene_Article / Article
• 2023. Naturally occurring canine laminopathy leading to a dilated and fibrosing cardiomyopathy in the Nova Scotia Duck Tolling Retriever. Sci Rep — PubMed:PMID37925523 | DOI:10.1038/s41598-023-46601-2 — 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:150330 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:115200 (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."