{"topic_id":"companion_breed_health_beagle_protein_deletion_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_beagle_protein_deletion_dog\ncategory: companion-breed-health\ntitle: \"Beagle — Protein deletion (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/beagle_protein_deletion_2762.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 132\nverification:\n  method: substring_match\n  claims: 4\n  passed: 4\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_beagle_protein_deletion_dog/01_companion_breed_health_beagle_protein_deletion_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: \"Beagle — Protein deletion (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA001405/9615/\"\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# Beagle — Protein deletion (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: Beagle (Dog)`\n- `Disorder: Protein deletion`\n- `Summary: 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).`\n- `Defect: no`\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: CYPIA2 (Entrez Gene ID 26595581) — OMIA Phene_Gene / GeneSynonym\n- 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&gt;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 …\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- 2004. Identification of non-functional allelic variant of CYP1A2 in dogs. Pharmacogenetics — PubMed:PMID15564884 — OMIA Phene_Article / Article\n- 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\n- 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\n- 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\n- 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\n- 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\n- 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\n- 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\n- 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\n- 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\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:124060 (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 — Beagle — Protein deletion (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Beagle — Protein deletion (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/15564884/","retrieved":"","ref":"PMID 15564884","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":941,"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."}