--- license: permission_granted topic_id: companion_breed_health_english_springer_spaniel_omia5195_dog category: companion-breed-health title: "English Springer Spaniel — Pseudomyotonia, paradoxical, SLC7A10-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/english_springer_spaniel_omia5195_5195.txt date_parsed: 2026-08-02 tokens_estimated: 330 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_english_springer_spaniel_omia5195_dog/01_companion_breed_health_english_springer_spaniel_omia5195_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: "English Springer Spaniel — Pseudomyotonia, paradoxical, SLC7A10-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002645/9615/" 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
English Springer Spaniel — Pseudomyotonia, paradoxical, SLC7A10-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: English Springer Spaniel (Dog)Disorder:Mode of inheritance: Autosomal recessiveClin feat: Stee et al. (2020) report onset of episodes of myotonic-like generalised muscle stiffness post strenuous exercise (exercise-induced, climbing stairs, jumping) in affected dogs typically before they are 2 years of age. Episodes generally resolve in less than 45 seconds, but van Poucke et al. (2023) report that more severe episodes can be associated with apnoea and cyanosis. Stee et al. (2020) state that extreme outside temperatures seemed to considerably worsen episode frequency and severity in most dogs. Complete blood count, serum biochemistry including electrolytes, urinalysis, brain magnetic resonance imaging, cerebrospinal fluid analysis, electromyography, motor nerve conduction velocity, ECG, and echocardiography were unremarkable. Muscle biopsy samples showed moderate but nonspecific muscle atrophy. IT thanks DVM student Adeline Choi, who provided the basis of this contribution in May 2023.Defect: yesPrevalence: Van Poucke et al. (2023): The [c.126CA(p.(Cys42Ter)) SLC7A10] variant has an estimated prevalence of 2.5% in both breeds in the British study samples, but was not identified in the Belgian study samples.
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 388250809 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
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.
- 2020. Paradoxical pseudomyotonia in English Springer and Cocker Spaniels. J Vet Intern Med — PubMed:PMID31729100 | DOI:10.1111/jvim.15660 — OMIA Phene_Article / Article
- 2023. The c.126C>A(p.(Cys42Ter)) SLC7A10 nonsense variant is a candidate causative variant for paradoxical pseudomyotonia in English Cocker and Springer Spaniels. Anim Genet — PubMed:PMID36869603 | DOI:10.1111/age.13312 — 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:607959 (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."