--- license: permission_granted topic_id: companion_breed_health_domestic_shorthair_omia2228_cat category: companion-breed-health title: "Domestic Shorthair — Mucolipidosis II (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/domestic_shorthair_omia2228_2228.txt date_parsed: 2026-08-02 tokens_estimated: 325 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_domestic_shorthair_omia2228_cat/01_companion_breed_health_domestic_shorthair_omia2228_cat.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Domestic Shorthair — Mucolipidosis II (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001248/9685/" 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
Domestic Shorthair — Mucolipidosis II (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: Domestic Shorthair (Cat)Disorder:Mode of inheritance: Autosomal recessiveSummary: The first case of I-cell disease reported in any animal was by Bosshard et al. (1996), who described an affected female domestic short-haired cat. A colony has been established at the Laboratory of Pathology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia. A second case was also reported in 1996, by Hubler et al. (1996).Clin feat: (From Bosshard et al. 1996) Facial dysmorphism, large paws in relation to body size, dysostosis multiplex, poor growth, abnormal gait, extreme stiffness of skin, reduced mobility of spine, developmental delay, congenital hip dysplasia, retinal changes, and a rapid course of deterioration. Presented at 7 months; euthanased at 11 months.Defect: yesPathology: The Golgi enzyme UDP-N-acetylglucosamine-1-phosphotransferase was deficient in leukocytes and cultured fibroblasts. Twelve lysosomal hydrolases showed abnormally low activity in fibroblasts but markedly elevated activity in blood plasma. Lysosomal inclusions (comprising oligosaccharides, mucopolysaccharides and lipids) were present in cells of mesenchymal origin - fibroblasts, endothelial cells, and chondrocytes.
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 389727979 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Affected cats were homozygous for a single base substitution (c.2644C > T) in exon 13 of GNPTAB [omia.variant:1035], changing the codon for glutamine [CAG] to a premature stop codon [TAG] (p.Gln882*). This variant predicts severe truncation and complete dysfunction of the GNPTAB enzyme (Wang et al., 2018)
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.
- 1996. Spontaneous mucolipidosis in a cat - an animal model of human I-cell disease. Veterinary Pathology — PubMed:PMID8826001 — OMIA Phene_Article / Article
- 1996. Mucolipidosis type II in a domestic shorthair cat. Journal of Small Animal Practice — PubMed:PMID8887204 — OMIA Phene_Article / Article
- 2003. Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: the first animal model of human I-cell disease. J Hered — PubMed:PMID14557388 — OMIA Phene_Article / Article
- 2012. Dried blood spots for the enzymatic diagnosis of lysosomal storage diseases in dogs and cats. Vet Clin Pathol — PubMed:PMID23121383 | DOI:10.1111/j.1939-165x.2012.00485.x — OMIA Phene_Article / Article
- 2018. A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease). BMC Vet Res — PubMed:PMID30591066 | DOI:10.1186/s12917-018-1728-1 — OMIA Phene_Article / Article
- 2020. Mucolipidoses overview: Past, present, and future. Int J Mol Sci — PubMed:PMID32957425 | DOI:10.3390/ijms21186812 — OMIA Phene_Article / Article
- 2024. Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals. Front Vet Sci — PubMed:PMID39703406 | DOI:10.3389/fvets.2024.1497817 — OMIA Phene_Article / Article
- 2025. Age sensitive response of systemic AAV-mediated gene therapy in a newly characterized feline model of mucolipidosis II. Mol Ther — PubMed:PMID40285357 | DOI:10.1016/j.ymthe.2025.04.030 — 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:252500 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:607840 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:252600 (type: trait) — 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."