--- license: permission_granted topic_id: companion_breed_health_mixed_breed_omia3364_dog category: companion-breed-health title: "Mixed Breed — Gangliosidosis, GM2, type II (Sandhoff or variant 0) (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/mixed_breed_omia3364_3364.txt date_parsed: 2026-08-02 tokens_estimated: 199 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_mixed_breed_omia3364_dog/01_companion_breed_health_mixed_breed_omia3364_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: "Mixed Breed — Gangliosidosis, GM2, type II (Sandhoff or variant 0) (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001462/9615/" 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
Mixed Breed — Gangliosidosis, GM2, type II (Sandhoff or variant 0) (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: Mixed Breed (Dog)Disorder:Mode of inheritance: Autosomal recessiveDefect: yesPrevalence: Kolicheski et al. (2017): To estimate the frequency of the 3-bp HEXB deletion among the Shiba Inu, all 40 Shiba Inu represented in the University of Missouri DNA repository were genotyped by PCR-RFLP for this deletion. Thirty-seven of the tested Shiba Inu were homozygous for the reference allele; the other 3 were heterozygotes. These heterozygotes were born in 2002, 2004, and 2007. There are no known familial relationships among them or between them and the 2 affected Shiba Inu described here. This observation suggests that the 3-bp HEXB deletion may be rare but widely distributed in the Shiba Inu breed.
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 296413295 (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.
- 2002. Sandhoff disease in a golden retriever dog. J Inherit Metab Dis — PubMed:PMID12227463 | DOI:10.1023/a:1016562626961 — OMIA Phene_Article / Article
- 2005. Magnetic resonance imaging of GM2-gangliosidosis in a golden retriever. Can Vet J — PubMed:PMID15884653 — OMIA Phene_Article / Article
- 2010. GM2 gangliosidosis variant 0 (Sandhoff-like disease) in a family of toy poodles. J Vet Intern Med — PubMed:PMID20695991 | DOI:10.1111/j.1939-1676.2010.0564.x — OMIA Phene_Article / Article
- 1987. Partial deficiency of beta-hexosaminidase activity in canine GM2-gangliosidosis. Tohoku J Exp Med — PubMed:PMID2958961 | DOI:10.1620/tjem.152.333 — OMIA Phene_Article / Article
- 2012. A frameshift mutation in the canine HEXB gene in toy poodles with GM2 gangliosidosis variant 0 (Sandhoff disease). Vet J — PubMed:PMID22766310 | DOI:10.1016/j.tvjl.2012.05.021 — OMIA Phene_Article / Article
- 2013. Real-time PCR genotyping assay for GM2 gangliosidosis variant 0 in toy poodles and the mutant allele frequency in Japan. J Vet Med Sci — PubMed:PMID24161966 | DOI:10.1292/jvms.13-0443 — OMIA Phene_Article / Article
- 2015. GM2 gangliosidosis variant 0 (Sandhoff Disease) in a mixed-breed dog. J Am Anim Hosp Assoc — PubMed:PMID26535459 | DOI:10.5326/JAAHA-MS-6258 — OMIA Phene_Article / Article
- 2016. In situ detection of GM1 and GM2 gangliosides using immunohistochemical and immunofluorescent techniques for auxiliary diagnosis of canine and feline gangliosidoses. BMC Vet Res — PubMed:PMID27036194 | DOI:10.1186/s12917-016-0691-y — OMIA Phene_Article / Article
- 2016. Animal models of GM2 gangliosidosis: utility and limitations. Appl Clin Genet — PubMed:PMID27499644 | DOI:10.2147/TACG.S85354 — OMIA Phene_Article / Article
- 2017. GM2 gangliosidosis in Shiba Inu dogs with an in-frame deletion in HEXB. J Vet Intern Med — PubMed:PMID28833537 | DOI:10.1111/jvim.14794 — OMIA Phene_Article / Article
- 2018. Canine GM2-gangliosidosis Sandhoff disease associated with a 3-base pair deletion in the HEXB gene. J Vet Intern Med — PubMed:PMID29106755 | DOI:10.1111/jvim.14862 — 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:268800 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:606873 (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."