--- license: permission_granted topic_id: companion_breed_health_huntaway_protein_deletion_dog category: companion-breed-health title: "Huntaway — Protein deletion (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/huntaway_protein_deletion_2762.txt date_parsed: 2026-08-02 tokens_estimated: 133 verification: method: substring_match claims: 4 passed: 4 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_huntaway_protein_deletion_dog/01_companion_breed_health_huntaway_protein_deletion_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: "Huntaway — Protein deletion (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001405/9615/" 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
Huntaway — Protein deletion (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: Huntaway (Dog)Disorder: Protein deletionSummary: In the first of two papers, Mise et al. (2004; Drug Metab Dispos 32:240-5) reported a polymorphism in ability to metabolize a novel cognitive enhancer AC-3933. Tenmizu et al. (2004) reported a similar polymorphism for a novel and selective phosphodiesterase type 4 inhibitor, YM-64227. In both cases, dogs were classified as poor metabolizers (PM) or extensive metabolizers (EM).Defect: no
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: CYPIA2 (Entrez Gene ID 26595581) — OMIA Phene_Gene / GeneSynonym
- OMIA molecular-genetics note: By cloning and sequencing a set of likely candidate genes (based on knowledge of the physiology of this type of metabolism) Mise et al. (2004; Pharmacogenetics 14:769-73) showed that a 1117C>T nonsense mutation in the CYP1A2 gene is associated with the poor metabolizer (PM) phenotype in relation to AC-3933. The same mutation was reported by Tenmizu et al. (2004) as being associated with the PM …
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.
- 2004. Identification of non-functional allelic variant of CYP1A2 in dogs. Pharmacogenetics — PubMed:PMID15564884 — OMIA Phene_Article / Article
- 2004. Polymorphic expression of CYP1A2 leading to interindividual variability in metabolism of a novel benzodiazepine receptor partial inverse agonist in dogs. Drug Metab Dispos — PubMed:PMID14744947 | DOI:10.1124/dmd.32.2.240 — OMIA Phene_Article / Article
- 2004. Identification of the novel canine CYP1A2 1117 C > T SNP causing protein deletion. Xenobiotica — PubMed:PMID15742977 | DOI:10.1080/00498250412331285436 — OMIA Phene_Article / Article
- 2006. Elucidation of the effects of the CYP1A2 deficiency polymorphism in the metabolism of 4-cyclohexyl-1-ethyl-7-methylpyrido[2,3-d]pyrimidine-2-(1h)-one (YM-64227), a phosphodiesterase type 4 inhibitor, and its metabolites in dogs. Drug Metab Dispos — PubMed:PMID16882764 | DOI:10.1124/dmd.106.011213 — OMIA Phene_Article / Article
- 2006. The canine CYP1A2 deficiency polymorphism dramatically affects the pharmacokinetics of 4-cyclohexyl-1-ethyl-7-methylpyrido[2,3-D]-pyrimidine-2-(1H)-one (YM-64227), a phosphodiesterase type 4 inhibitor. Drug Metab Dispos — PubMed:PMID16473917 | DOI:10.1124/dmd.105.008722 — OMIA Phene_Article / Article
- 2023. Liver microsomal cytochrome P450 3A-dependent drug oxidation activities in individual dogs. Xenobiotica — PubMed:PMID37144920 | DOI:10.1080/00498254.2023.2211673 — OMIA Phene_Article / Article
- 2023. Metabolism of ropinirole is mediated by several canine CYP enzymes. Vet Med Sci — PubMed:PMID37317989 | DOI:10.1002/vms3.1188 — OMIA Phene_Article / Article
- 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article
- 2025. Evaluation of the relationship between cytochrome P450 (CYP) 1A2 gene copy number variation and CYP1A2 protein content and enzyme activity in canine liver. Front Vet Sci — PubMed:PMID40765748 | DOI:10.3389/fvets.2025.1511341 — OMIA Phene_Article / Article
- 2025. Survey of functional Mendelian variants in New Zealand Huntaway and Heading dog breeds. Anim Genet — PubMed:PMID40965331 | DOI:10.1111/age.70042 — 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:124060 (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."