Miniature Australian Shepherd Dog — Hyperekplexia, GLRA1-related (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_miniature_australian_shepherd_dog_omia5367_dog category: companion-breed-health title: "Miniature Australian Shepherd Dog — Hyperekplexia, GLRA1-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/miniature_australian_shepherd_dog_omia5367_5367.txt date_parsed: 2026-08-02 tokens_estimated: 234 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_miniature_australian_shepherd_dog_omia5367_dog/01_companion_breed_health_miniature_australian_shepherd_dog_omia5367_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: "Miniature Australian Shepherd Dog — Hyperekplexia, GLRA1-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000689/9615/" 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

Miniature Australian Shepherd Dog — Hyperekplexia, GLRA1-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: Miniature Australian Shepherd Dog (Dog)
• Disorder:
• Mode of inheritance: Autosomal recessive
• Clin feat: Heinonen et al. (2023) report Miniature Australian Shepherd dogs with episodes of muscle stiffness that could occasionally be triggered by acoustic stimuli.
• Defect: yes
• 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.

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 388253940 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• 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 …

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.

• 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
• 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — 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:149400 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:138491 (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."