{"topic_id":"companion_breed_health_dachshund_brittle_bone_disease_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_dachshund_brittle_bone_disease_dog\ncategory: companion-breed-health\ntitle: \"Dachshund — Brittle bone disease (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/dachshund_brittle_bone_disease_2922.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 620\nverification:\n  method: substring_match\n  claims: 8\n  passed: 8\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_dachshund_brittle_bone_disease_dog/01_companion_breed_health_dachshund_brittle_bone_disease_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: \"Dachshund — Brittle bone disease (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA001483/9615/\"\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# Dachshund — Brittle bone disease (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: Dachshund (Dog)`\n- `Disorder: Brittle bone disease`\n- `Mode of inheritance: Autosomal recessive`\n- `Summary: Several forms of osteogenesis imperfecta have been identified so far in dogs. See also 'OMIA000754-9615 Osteogenesis imperfecta, generic', 'OMIA002126-9615 Osteogenesis imperfecta, type III, COL1A1-related' and 'OMIA 002112-9615 Osteogenesis imperfecta, COL1A2-related'`\n- `Clin feat: Clinical features include reduced agility, pain, spontaneous and intrauterine bone and teeth fractures, joint hyperlaxity, brittle, thin-walled primary teeth, and reduced bone density on radiography (Seeliger et al., 2003). Low bone mass and reduced bone strength leading to bone fragility and deformity can be observed (Lindert et al., 2015). other clinical signs include blue-grey sclera, progressive hearing loss, dwarfism, and other developmental complications (Drögemüller et al., 2009). Stillbirths have been reported to occur as part of this condition (Schütz et al., 2013). [IT thanks DVM student Carol Bency, who provided the basis of this contribution in April 2022]`\n- `Defect: yes`\n- `Pathology: Histologically collagen fibres are reduced in number but regularly patterned. Insufficient conversion of cartilage and connective tissue to bone is resulting in reduced bone mass and absence of mature bone tissue in both medullary and cortical regions. The dentine layer of the teeth is thin and missing a normal tubular pattern. The bone marrow has slightly increased density of all cell lines (Seeliger et al., 2003) [IT thanks DVM student Carol Bency, who provided the basis of this contribution in April 2022]`\n- `Prevalence: Schütz et al. (2012) genotyped 591 German Dachshunds and estimated the frequency of the causative allele to be 8.86%. They also observed a significantly increased mortality rate among the offspring of carriers. Eckardt et al. (2013) reported the results of genotyping 1352 Dachshunds from 12 European countries for the causative mutation: The overall frequency of OI [osteogenesis imperfecta] carriers was 12.9 per cent. Across all different size varieties, the SERPINH1 mutation was over-represented in wire-haired dachshunds with 17.3 per cent OI carriers. Among the different countries, the proportion of OI carriers was highest in Germany with 20.4 per cent. As noted by Schütz et al. (2013), this estimate is consistent with the allele-frequency estimate of Schütz et al. (2012).`\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 3483476 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Drögemüller et al. (2009) showed that this disorder in Dachsunds is due to a missense variant (c.977T>C, p.Leu326Pro) in a conserved domain of the SERPINH1 gene. SERPINH1 acts as a chaperone to assist in the correct assembly of the nascent procollagen chains (Widmer et al. 2012). Lindert et al. (2015) investigated the functional impact of the SERPINH1 variant in detail by studying fibroblast cultu…\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- 2009. A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta. PLoS Genet — PubMed:PMID19629171 | DOI:10.1371/journal.pgen.1000579 — OMIA Phene_Article / Article\n- 2013. Population screening for the mutation associated with osteogenesis imperfecta in dachshunds. Vet Rec — PubMed:PMID23315765 | DOI:10.1136/vr.101122 — OMIA Phene_Article / Article\n- 2012. [Osteogenesis imperfecta in the Dachshund]. Kleintierpraxis — OMIA Phene_Article / Article\n- 2003. Osteogenesis imperfecta in two litters of dachshunds. Vet Pathol — PubMed:PMID12949410 | DOI:10.1354/vp.40-5-530 — OMIA Phene_Article / Article\n- 2012. [DNA testing for osteogenesis imperfecta in the Dachshund.]. Point Veterinaire — OMIA Phene_Article / Article\n- 2013. Osteogenesis imperfecta in dachshunds. Vet Rec — PubMed:PMID23525816 | DOI:10.1136/vr.f1823 — OMIA Phene_Article / Article\n- 2013. Osteogenesis imperfecta in dachshunds. J. Eckardt, S. Kluth, C. Dierks, U. Philipp and O. Distl comment. Vet Rec — PubMed:PMID23525818 | DOI:10.1136/vr.f1870 — OMIA Phene_Article / Article\n- 2015. Molecular consequences of the SERPINH1/HSP47 mutation in the dachshund natural model of osteogenesis imperfecta. J Biol Chem — PubMed:PMID26004778 | DOI:10.1074/jbc.M115.661025 — OMIA Phene_Article / Article\n- 2012. Molecular basis for the action of the collagen-specific chaperone Hsp47/SERPINH1 and its structure-specific client recognition. Proc Natl Acad Sci U S A — PubMed:PMID22847422 | DOI:10.1073/pnas.1208072109 — 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:600943 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:613848 (type: trait) — 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 — Dachshund — Brittle bone disease (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Dachshund — Brittle bone disease (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/19629171/","retrieved":"","ref":"PMID 19629171","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":1218,"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."}