Rabbit (Oryctolagus cuniculus) — C8 deficiency (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: Rabbit (Oryctolagus cuniculus)Disorder: C8 deficiencySummary: C8 deficiency was discovered in a line of rabbits undergoing selection for high and low total complement haemolytic activity (Komatsu, 1985). Both the alpha and gamma genes are transcribed, producing normal quantities of mRNA. However, the mature mRNA from the alpha gene of C8-deficient rabbits includes a 93-bp intron, suggesting that the disorder is due to a mutation at an exon/intron junction (Komatsu, 1992). Sequencing of mutant and normal genes is underway, to determining the exact mutation.Clin feat: dwarfism (non-pituitary); small litter size; small thymus; low survival rate; severely reduced bactericidal activity; enhanced delayed-type hypersensitivity
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 43731941 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
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.
- 1991. Genetic Deficiency of Complement Component-C8 in the Rabbit - Evidence of a Translational Defect in Expression of the alpha-gamma Subunit. Biochemical Genetics — PubMed:PMID1772398 — OMIA Phene_Article / Article
- 1990. Hereditary C8-alpha-gamma deficiency associated with dwarfism in the rabbit. Journal of Heredity — OMIA Phene_Article / Article
- 1992. Molecular Biology for Genetic Deficiencies of Complement Components in Rabbits - C8alpha-gamma Deficiency and C3- Hypocomplementemia. JARQ - Japan Agricultural Research Quarterly — OMIA Phene_Article / Article
- 1985. Genetic deficiency of the alpha-gamma subunit of the eighth complement component in rabbits. Journal of Immunology — PubMed:PMID3973389 — OMIA Phene_Article / Article
- 1985. A method for developing hereditary deficiency of complement component in the rabbit. Experimental Animals — PubMed:PMID4018150 — 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:120950 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:613790 (type: trait) — OMIA Group_OMIM (via OMIA_ID)