{"topic_id":"companion_breed_health_mixed_breed_omia3364_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_mixed_breed_omia3364_dog\ncategory: companion-breed-health\ntitle: \"Mixed Breed — Gangliosidosis, GM2, type II (Sandhoff or variant 0) (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/mixed_breed_omia3364_3364.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 199\nverification:\n  method: substring_match\n  claims: 5\n  passed: 5\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_mixed_breed_omia3364_dog/01_companion_breed_health_mixed_breed_omia3364_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: \"Mixed Breed — Gangliosidosis, GM2, type II (Sandhoff or variant 0) (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA001462/9615/\"\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# Mixed Breed — Gangliosidosis, GM2, type II (Sandhoff or variant 0) (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: Mixed Breed (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Defect: yes`\n- `Prevalence: 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.`\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 296413295 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\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- 2002. Sandhoff disease in a golden retriever dog. J Inherit Metab Dis — PubMed:PMID12227463 | DOI:10.1023/a:1016562626961 — OMIA Phene_Article / Article\n- 2005. Magnetic resonance imaging of GM2-gangliosidosis in a golden retriever. Can Vet J — PubMed:PMID15884653 — OMIA Phene_Article / Article\n- 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\n- 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\n- 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\n- 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\n- 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\n- 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\n- 2016. Animal models of GM2 gangliosidosis: utility and limitations. Appl Clin Genet — PubMed:PMID27499644 | DOI:10.2147/TACG.S85354 — OMIA Phene_Article / Article\n- 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\n- 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\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:268800 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:606873 (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 — Mixed Breed — Gangliosidosis, GM2, type II (Sandhoff or variant 0) (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Mixed Breed — Gangliosidosis, GM2, type II (Sandhoff or variant 0) (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/12227463/","retrieved":"","ref":"PMID 12227463","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":963,"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."}