--- license: permission_granted topic_id: companion_breed_health_border_collie_omia3872_dog category: companion-breed-health title: "Border Collie — Dental hypomineralization (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/border_collie_omia3872_3872.txt date_parsed: 2026-08-02 tokens_estimated: 97 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_border_collie_omia3872_dog/01_companion_breed_health_border_collie_omia3872_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: "Border Collie — Dental hypomineralization (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002015/9615/" 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
Border Collie — Dental hypomineralization (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: Border Collie (Dog)Disorder:Mode of inheritance: Autosomal recessiveClin feat: Hytönen et a. (2016) were approached by a Border Collie breeder with a family of several affected dogs that suffered from severe tooth wear resulting in pulpitis and requiring extraction of those teethDefect: yes
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 388255609 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Hytönen et al. (2016): the likely causal mutation in Border Collies is a "non-synonymous [missense] homozygous variant, c.899C>T, in the FAM20C gene. This leads to a missense change, p.A300V, in a highly conserved position in the kinase domain of the FAM20C protein".
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.
- 2016. Molecular characterization of three canine models of human rare bone diseases: Caffey, van den Ende-Gupta, and Raine syndromes. PLoS Genet — PubMed:PMID27187611 | DOI:10.1371/journal.pgen.1006037 — OMIA Phene_Article / Article
- 2016. Canine models of human rare disorders. Rare Dis — PubMed:PMID27803843 | DOI:10.1080/21675511.2016.1241362 — 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:259775 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:611061 (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."