Cat (Felis catus) — Haemophilia B (hereditary; OMIA-verified species predisposition)
Source: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Species: Cat (Felis catus)Disorder: Haemophilia BSummary: See also ' OMIA:001526-9685 : Factors IX and XII, combined deficiency of in Felis catus'
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 493973 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: By sequencing an obvious candidate gene (F9), Goree et al. (2005) reported different causative mutations in two affected cats: "Affected cat 1 had a single nucleotide change in exon 8 at the 1st nucleotide position of the codon encoding an arginine (CGA to TGA) at amino acid position 338 [omia.variant:310]. This mutation would be predicted to result in the appearance of a premature stop codon in t…
Causal variant(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.
- Variant: chromosome 6; nt change NM_001192797.1:c.1222C>T; protein NP_001179726.1:p.(H408T); dbSNP rs5334475098; pathogenicity class 1 — OMIA Variant / Variant_Phene
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.
- 1993. Factor IX deficiency (hemophilia B) in a family of British Shorthair cats. J Am Vet Med Assoc — PubMed:PMID8307821 — OMIA Phene_Article / Article
- 2005. Characterization of the mutations causing hemophilia B in 2 domestic cats. J Vet Intern Med — PubMed:PMID15822564 | DOI:10.1892/0891-6640(2005)19<200:cotmch>2.0.co;2 — OMIA Phene_Article / Article
- 1988. The effect of danazol treatment on factor IX deficiency in cats. Vet Clin Pathol — PubMed:PMID15162324 | DOI:10.1111/j.1939-165x.1988.tb00496.x — OMIA Phene_Article / Article
- 1988. Inherited coagulation disorders. Vet Clin North Am Small Anim Pract — PubMed:PMID3282382 | DOI:10.1016/s0195-5616(88)50018-9 — OMIA Phene_Article / Article
- 2024. Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals. Front Vet Sci — PubMed:PMID39703406 | DOI:10.3389/fvets.2024.1497817 — 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:306900 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:300746 (type: gene) — OMIA Group_OMIM (via OMIA_ID)