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English Springer Spaniel — Gangliosidosis, GM1 (hereditary; OMIA-verified breed predisposition)

companion_breed_health_english_springer_spaniel_omia702_dog

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--- license: permission_granted topic_id: companion_breed_health_english_springer_spaniel_omia702_dog category: companion-breed-health title: "English Springer Spaniel — Gangliosidosis, GM1 (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_omia702_702.txt date_parsed: 2026-08-02 tokens_estimated: 646 verification: method: substring_match claims: 10 passed: 10 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_english_springer_spaniel_omia702_dog/01_companion_breed_health_english_springer_spaniel_omia702_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 — Gangliosidosis, GM1 (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000402/9615/" 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 — Gangliosidosis, GM1 (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 recessive
  • Summary: GM1 gangliosidosis is a lysosomal storage disease caused by beta galactosidase deficiency and characterized by progressive neurological deterioration. It is caused by mutations in GLB1, although the mutations differ by breed. There is a genetic test available.
  • Clin feat: Affected dogs generally have proportional dwarfism, which is easily observed in the Alaskan husky, and all develop progressive cerebellar dysfunction and limb weakness. Signs include weight loss, ataxia, wide-based gait, decreased proprioception, intention tremor of the head, ataxia, hypermetria, dysmetria, internal strabismus, and positional nystagmus. Signs begin around 6 to 8 weeks of age, and are clearly noticeable by 7 months of age. Abnormal endochondral ossification of vertebral epiphyses was visible in radiographs of 5.5 month old affected Alaskan huskies. Affected dogs occasionally have an increase in serum ALP. Coarse facial features are seen in affected English springer spaniels (Müller et al., 2001, Alroy et al., 1992). Bone marrow transplantation therapy was attempted but ineffective in affected Portugese water dogs (O’Brien et al., 1990).
  • Defect: yes
  • Pathology: Affected dogs are deficient in acid beta-galactosidase and are unable to completely degrade complex oligosaccharides. The result is lysosomal accumulation of GM1 gangliosides and other galactose-containing glycoconjugates with a nonreduced terminal beta-galactosidic linkage (Müller et al., 2001). On histologic examination, most neurons in the central nervous system contain densely packed, PAS positive cytoplasmic inclusions, giving the appearance of foamy or granular cytoplasm. Other changes include mild demyelination, axonal degeneration, significant astrogliosis, and significant loss of oligodendrocytes (Müller et al., 2001). Vacuoles are also found in hepatocytes and renal tubular epithelial cells (Shell et al 1989).
  • Prevalence: The frequency of heterozygotes in normal (unaffected) Shiba Inu dogs in Japan has been reported by Yamato et al. (2008) as 2/68 (2.94%) and by Uddin et al. (2013) as 6/590 (1.02%). In unaffected miniature Shibu Inu (called Mame Shiba), Pervin et al. (2022) reported a heterozygote frequency of 9/1832 (= 0.49%).
  • Control: Relatives of affected dogs should be tested and breeding of affected or carrier dogs should be avoided.
  • Gen test: There are tests available to detect the known causative mutations.

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 403873 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
  • OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Wang et al. (2000) showed that the causative mutation in Portuguese water dogs is a G to A transition in exon 2 of the GLB1 gene, that causes an amino acid change from arginine to histidine in the resultant peptide. The causative mutation in Shiba dogs is a deletion of a cytosine in exon 15…

Causal variant(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.

  • Variant: chromosome C1; pathogenicity class 1; gene T1R2 — OMIA Variant / Variant_Phene

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.

  • 1990. Bone Marrow Transplantation in Canine GM1 Gangliosidosis. Clinical Genetics — PubMed:PMID2125250 — OMIA Phene_Article / Article
  • 1992. Canine GM1-Gangliosidosis - A Clinical, Morphologic, Histochemical, and Biochemical Comparison of Two Different Models. American Journal of Pathology — PubMed:PMID1546746 — OMIA Phene_Article / Article
  • 1992. Reduced Levels of Neuronal-Specific Microtubule-Associated Protein (MAP2) in Canine G(M1)-Gangliosidosis. Neuroscience Research Communications — OMIA Phene_Article / Article
  • 1992. Dysmyelinogenesis in Animal Model of GM1 Gangliosidosis. Pediatric Neurology — PubMed:PMID1388413 — OMIA Phene_Article / Article
  • 1995. Retarded bone formation in G(M1)-gangliosidosis: A study of the infantile form and comparison with two canine models. Virchows Archiv - an International Journal of Pathology — PubMed:PMID7757284 — OMIA Phene_Article / Article
  • 1998. Biochemical findings in a breeding colony of Alaskan huskies suffering from GM(1)-gangliosidosis. Journal of Inherited Metabolic Disease — PubMed:PMID9700604 — OMIA Phene_Article / Article
  • 2000. GM1 gangliosidosis in shiba dogs. Veterinary Record — PubMed:PMID10887996 — OMIA Phene_Article / Article
  • 2000. G(M1)-gangliosidosis in a cross-bred dog confirmed by detection of G(M1)-ganglioside using electrospray ionisation-tandem mass spectrometry. Acta Neuropathologica — PubMed:PMID10985700 — OMIA Phene_Article / Article
  • 2000. Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis. J Inherit Metab Dis — PubMed:PMID11032334 | DOI:10.1023/a:1005630013448 — OMIA Phene_Article / Article
  • 2002. A novel mutation in the gene for canine acid beta-galactosidase that causes GM1-gangliosidosis in Shiba dogs. Journal of Inherited Metabolic Disease — PubMed:PMID12555949 — OMIA Phene_Article / Article
  • 2003. Clinical and clinico-pathologic characteristics of Shiba dogs with a deficiency of lysosomal acid beta-galactosidase: a canine model of human GM1 gangliosidosis. Journal of Veterinary Medical Science — PubMed:PMID12655116 — OMIA Phene_Article / Article
  • 2004. Rapid and simple mutation screening of G(M1) gangliosidosis in Shiba dogs by direct amplification of deoxyribonucleic acid from various forms of canine whole-blood specimens. J Vet Diagn Invest — PubMed:PMID15460336 — OMIA Phene_Article / Article
  • (32 additional references in OMIA)

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:230500 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:230650 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:230600 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:253010 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:611458 (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."

Sources

English Springer Spaniel — Gangliosidosis, GM1 (hereditary; OMIA-verified breed predisposition)
companion-breed-healthPMID 2125250

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