{"topic_id":"companion_breed_health_jack_russell_terrier_omia4347_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_jack_russell_terrier_omia4347_dog\ncategory: companion-breed-health\ntitle: \"Jack Russell Terrier — Familial adenomatous polyposis (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/jack_russell_terrier_omia4347_4347.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 181\nverification:\n  method: substring_match\n  claims: 6\n  passed: 6\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_jack_russell_terrier_omia4347_dog/01_companion_breed_health_jack_russell_terrier_omia4347_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: \"Jack Russell Terrier — Familial adenomatous polyposis (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA001916/9615/\"\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# Jack Russell Terrier — Familial adenomatous polyposis (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: Jack Russell Terrier (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Probably autosomal dominant`\n- `Defect: yes`\n- `Prevalence: From a sample of 792 Jack Russel Terriers (JRTs) from 93 Japanese veterinary clinics, Yoshizaki et al. (2022) reported that The current frequency of the germline APC variant [c.[462_463delinsTT]; OMIA variant 1206] was approximately 2% in JRTs in Japan and the frequency remained roughly flat during the last 15 years. In addition, hereditary GI polyposis associated with the variant was virtually specific to JRTs.`\n- `Gen test: Yoshizaki et al. (2021) reported a PCR-based genotyping test for the c.[462_463delinsTT] variant.`\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 388246964 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Yoshizaki et al. (2020) reported that \"all examined JRTs with GI polyps (n=21) harbored the identical heterozygous germline APC mutations, represented by a two-base pair substitution [c.[462_463delinsTT]]. The latter substitution was a nonsense mutation (p.K155X) resulting in a truncated APC protein, thus suggesting a strong association with this cancer-prone disorder.\"\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- 2020. Familial adenomatous polyposis in dogs: Hereditary gastrointestinal polyposis in Jack Russell terriers with germline APC mutations. Carcinogenesis — PubMed:PMID32445578 | DOI:10.1093/carcin/bgaa045 — OMIA Phene_Article / Article\n- 2021. PCR-based genotyping assays to detect germline APC variant associated with hereditary gastrointestinal polyposis in Jack Russell terriers. BMC Vet Res — PubMed:PMID33461531 | DOI:10.1186/s12917-020-02731-7 — OMIA Phene_Article / Article\n- 2022. Molecular epidemiological study of germline APC variant associated with hereditary gastrointestinal polyposis in dogs: current frequency in Jack Russell Terriers in Japan and breed distribution. BMC Vet Res — PubMed:PMID35717217 | DOI:10.1186/s12917-022-03338-w — OMIA Phene_Article / Article\n- 2023. First evidence of familial transmission of hereditary gastrointestinal polyposis associated with germline APC variant in Jack Russell Terriers. Vet Sci — PubMed:PMID37505844 | DOI:10.3390/vetsci10070439 — OMIA Phene_Article / Article\n- 2026. TP53 loss attenuates C1q-associated macrophage remodeling in early adenomatous polyps in a porcine FAP model. Front Immunol — PubMed:PMID42516388 | DOI:10.3389/fimmu.2026.1837646 — 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:175100 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:611731 (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 — Jack Russell Terrier — Familial adenomatous polyposis (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Jack Russell Terrier — Familial adenomatous polyposis (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/32445578/","retrieved":"","ref":"PMID 32445578","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":812,"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."}