--- license: permission_granted topic_id: companion_breed_health_jack_russell_terrier_omia4347_dog category: companion-breed-health title: "Jack Russell Terrier — Familial adenomatous polyposis (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/jack_russell_terrier_omia4347_4347.txt date_parsed: 2026-08-02 tokens_estimated: 181 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_jack_russell_terrier_omia4347_dog/01_companion_breed_health_jack_russell_terrier_omia4347_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: "Jack Russell Terrier — Familial adenomatous polyposis (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001916/9615/" 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
Jack Russell Terrier — Familial adenomatous polyposis (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: Jack Russell Terrier (Dog)Disorder:Mode of inheritance: Probably autosomal dominantDefect: yesPrevalence: 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.Gen test: Yoshizaki et al. (2021) reported a PCR-based genotyping test for the c.[462_463delinsTT] variant.
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 388246964 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- 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."
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.
- 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
- 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
- 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
- 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
- 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
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:175100 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:611731 (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."