{"topic_id":"companion_breed_health_landseer_muscular_dystrophy_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_landseer_muscular_dystrophy_dog\ncategory: companion-breed-health\ntitle: \"Landseer — Muscular Dystrophy (hereditary; OMIA-verified breed predisposition)\"\nlang: en\nsource: \"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.\"\nsource_file: pdf-raw/breed-health/landseer_muscular_dystrophy_3783.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 444\nverification:\n  method: substring_match\n  claims: 6\n  passed: 6\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_landseer_muscular_dystrophy_dog/01_companion_breed_health_landseer_muscular_dystrophy_dog.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n  authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n  title: \"Landseer — Muscular Dystrophy (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA001967/9615/\"\n  retrieved: \"2026-08-02\"\n  ref: \"OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n  doc_type: \"academic animal-genetics database (breed-specific disorder entries)\"\n  needs_review: false\n\n\n# Landseer — Muscular Dystrophy (hereditary; OMIA-verified breed predisposition)\n\nSource: 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.\n\n## Claims\n\n- `Breed: Landseer (Dog)`\n- `Disorder: Muscular Dystrophy`\n- `Mode of inheritance: Autosomal recessive`\n- `Clin feat: Generalized progressive muscle weakness is noticed very early in life. Due to the severity of the disease affected dogs are euthanized at 5-15 months of age (Steffen et al. 2015). Brands et al. (2020) present the long-term follow up characterization of the clinical and pathological phenotype of the Landseer dogs [homozgous for the p.Glu97* variant] and a comparative analysis between dogs and humans in order to provide the Landseer dog as a useful model for human UCMD.`\n- `Defect: yes`\n- `Pathology: All affected dogs showed pathological variation in muscle fiber size and most of the fibers were round to anisomorphic instead of having a (physiological) polygonal shape. Many small fibres were scattered throughout the biopsies, along with some hypercontracted fibres. Sporadically invading phagocytes grouped around degenerating fibers. Staining for acidic phosphatase showed an increase of activity, indicating degeneration to necrosis in a large number of fibres. Some biopsies correlated to an advanced stage of disease with distinct proliferation of the endomysial connective tissue and an increase of adipose tissue. These findings demonstrate different stages of muscular destruction with compensatory hypertrophy and replacement of lost fibers by connective tissue and fat cells. The histhopathological findings were typical for a muscular dystrophy. However, relatively normal immunohistochemistry findings with an anti-dystrophin antibody clearly showed that the muscular dystrophy in the Landseer dogs is different from the Duchenne/Becker type. (Steffen et al. 2015)`\n## Associated gene(s)\nDerived 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.\n- Gene: Entrez Gene ID 388199166 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n\n## Evidence (references)\nDerived 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.\n- 2015. A nonsense variant in COL6A1 in Landseer dogs with muscular dystrophy. G3 (Bethesda) — PubMed:PMID26438297 | DOI:10.1534/g3.115.021923 — OMIA Phene_Article / Article\n- 2013. Sarcolemmal specific collagen VI deficient myopathy in a Labrador Retriever. J Vet Intern Med — PubMed:PMID24147807 | DOI:10.1111/jvim.12224 — OMIA Phene_Article / Article\n- 2020. COL6A1 related muscular dystrophy in Landseer dogs - a canine model for Ullrich congenital muscular dystrophy. Muscle Nerve — PubMed:PMID33382107 | DOI:10.1002/mus.27162 — OMIA Phene_Article / Article\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:254090 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:120220 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n","sources":["companion-breed-health — Landseer — Muscular Dystrophy (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Landseer — Muscular Dystrophy (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/26438297/","retrieved":"","ref":"PMID 26438297","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":817,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}