{"topic_id":"companion_breed_health_miniature_australian_shepherd_dog_omia5367_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_miniature_australian_shepherd_dog_omia5367_dog\ncategory: companion-breed-health\ntitle: \"Miniature Australian Shepherd Dog — Hyperekplexia, GLRA1-related (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/miniature_australian_shepherd_dog_omia5367_5367.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 234\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_miniature_australian_shepherd_dog_omia5367_dog/01_companion_breed_health_miniature_australian_shepherd_dog_omia5367_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: \"Miniature Australian Shepherd Dog — Hyperekplexia, GLRA1-related (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA000689/9615/\"\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# Miniature Australian Shepherd Dog — Hyperekplexia, GLRA1-related (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: Miniature Australian Shepherd Dog (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Clin feat: Heinonen et al. (2023) report Miniature Australian Shepherd dogs with episodes of muscle stiffness that could occasionally be triggered by acoustic stimuli.`\n- `Defect: yes`\n- `Pathology: Heinonen et al. (2023): Morphological examination of the left semitendinosus and cranial tibial muscles revealed a moderate to marked increase of interfibrillar and subsarcolemmal lipid droplets going together with subhistological mitochondrial crowding and occasional cristae abnormalities ... . Individual fibers at ultrastructural level also revealed I-band misalignment and early necrotic changes. There was no evidence of myonuclear abnormalities, fiber mineralization, sarcoplasmic vacuolation, protein inclusions, or pathological storage of polysaccharides.`\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 388253940 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Heinonen et al. (2023): \"Whole genome sequence data analysis of two affected dogs revealed a 36-bp deletion spanning the exon–intron boundary in the glycine receptor alpha 1 (GLRA1) gene. Further validation in pedigree samples and an additional cohort of 127 Miniature Australian Shepherds, 45 Miniature American Shepherds and 74 Australian Shepherds demonstrated complete segregation of the variant …\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- 2023. A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia. Hum Genet — PubMed:PMID37222814 | DOI:10.1007/s00439-023-02571-z — OMIA Phene_Article / Article\n- 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — 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:149400 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:138491 (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 — Miniature Australian Shepherd Dog — Hyperekplexia, GLRA1-related (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Miniature Australian Shepherd Dog — Hyperekplexia, GLRA1-related (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/37222814/","retrieved":"","ref":"PMID 37222814","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":703,"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."}