--- license: permission_granted topic_id: companion_breed_health_chesapeake_bay_retriever_mps_vi_dog category: companion-breed-health title: "Chesapeake Bay Retriever — MPS VI (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/chesapeake_bay_retriever_mps_vi_1256.txt date_parsed: 2026-08-02 tokens_estimated: 204 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_chesapeake_bay_retriever_mps_vi_dog/01_companion_breed_health_chesapeake_bay_retriever_mps_vi_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: "Chesapeake Bay Retriever — MPS VI (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000666/9615/" 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
Chesapeake Bay Retriever — MPS VI (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: Chesapeake Bay Retriever (Dog)Disorder: MPS VIMode of inheritance: Autosomal recessiveDefect: yesPrevalence: Raj et al. (2020): Over the past 17 years, a total of 425 Miniature Pinschers and two mixed‐breed dogs from the USA, Canada and UK were genotyped; of them 18 (4.2%) were homozygous for the missense variant [c.910Ggt;A], including two mixed‐breed dogs, 78 (18.3%) were heterozygous and 331 (77.5%) were homozygous for the wt allele. All of the genotyped Miniature Pinschers that had clinical signs consistent with MPS VI were homozygous for the missense variant. . . . Whereas the Miniature Pinscher variant seemed to occur commonly (0.133 allele frequency), the Miniature Schnauzer variant was presumed to be rare
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 26646828 (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 disorder in other species), Berman et al. (2004) were the first to report a molecular basis of this disorder, as follows: "When the DNA coding sequence from miniature pinschers affected with MPS VI was compared to the normal canine sequence, a single missense mutation (G to A) was identified. This mutation,…
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.
- 1995. Clinical vignette. Mucopolysaccharidosis VI in a miniature pinscher. J Vet Intern Med — PubMed:PMID8558492 — OMIA Phene_Article / Article
- 2004. Mucopolysaccharidosis type VI in miniature pinschers: Screening for the mutation. Journal of Veterinary Internal Medicine — OMIA Phene_Article / Article
- 2012. Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene. N Z Vet J — PubMed:PMID22329490 | DOI:10.1080/00480169.2011.642791 — 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
- 2015. Mucopolysaccharidosis type VI in a juvenile miniature schnauzer dog with concurrent hypertriglyceridemia, necrotizing pancreatitis, and diabetic ketoacidosis. Can Vet J — PubMed:PMID25750448 — OMIA Phene_Article / Article
- 2018. Mucopolysaccharidosis Type VI in a Great Dane Caused by a Nonsense Mutation in the ARSB Gene. Vet Pathol — PubMed:PMID29157190 | DOI:10.1177/0300985817732115 — OMIA Phene_Article / Article
- 2004. Mucopolysaccharidosis type VI caused by a point mutation in the miniature Pinscher and a deletion in the miniature Schnauzer [abstract]. 2nd International Conference on Advances in Canine & Feline Genomics. Utrecht, The Netherlands — OMIA Phene_Article / Article
- 2020. Canine models of inherited musculoskeletal and neurodegenerative diseases. Front Vet Sci — PubMed:PMID32219101 | DOI:10.3389/fvets.2020.00080 — OMIA Phene_Article / Article
- 2020. ARSB gene variants causing Mucopolysaccharidosis VI in Miniature Pinscher and Miniature Schnauzer dogs. Anim Genet — PubMed:PMID32985704 | DOI:10.1111/age.13005 — OMIA Phene_Article / Article
- 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — 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:253200 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:611542 (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."