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."