Rabbit (Oryctolagus cuniculus) — C3 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: C3 deficiency
Summary: C3 deficiency was discovered in a line of rabbits undergoing selection for high and low total complement haemolytic activity (Komatsu, 1985). Preliminary molecular studies by Komatsu (1992) showed that the mutant allele produces only very low levels of C3 mRNA, suggesting a mutation in a control region of the gene. Sequencing is now underway to determine the exact molecular defect.
Clin feat: 10% of normal C3 serum levels; low survival rate; reduced serum bactericidal activity; suppressed delayed-type hypersensitivity
Gen test: Using a 1.6 kb fragment of rabbit C2 cDNA as a probe in Southern analysis, the three genotypes at this locus can be detected with either BglII, StuI, or SacI (Komatsu, 1992).

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.

OMIA entry symbol: C3D (no structured Phene_Gene link)

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.

1988. Hereditary C3 hypocomplementemia in the rabbit. Immunology — PubMed:PMID3410489 — 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

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:613779 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
OMIM:120700 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

Rabbit (Oryctolagus cuniculus) — C3 deficiency (hereditary; OMIA-verified species predisposition)