Rabbit (Oryctolagus cuniculus) — Achondroplasia-1 (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: Achondroplasia-1Clin feat: As first reported by Brown and Pearce (1945), this form of achondroplasia "is present at birth and is characterized by size reduction, by a disproportion of bodily parts, most marked in the extremities, and by an invariably lethal effect. The animals are still-born or die very shortly after birth. In physical appearance and in the character of the skeletal changes as shown by x-ray photographs, achondroplasia in the rabbit has a remarkable resemblance to the disease in man and in cattle and dogs."
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: Initially ac; later (Robinson, 1958) ac-1 (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.
- 1972. Studies of oxidative energy deficiency. I. Achondroplasia in the rabbit. Arch Biochem Biophys — PubMed:PMID4337533 | DOI:10.1016/0003-9861(72)90020-3 — OMIA Phene_Article / Article
- 1945. Hereditary achondroplasia in the rabbit: III. Genetic aspects; general considerations. J Exp Med — PubMed:PMID19871500 | DOI:10.1084/jem.82.4.281 — OMIA Phene_Article / Article
- 1945. Hereditary achondroplasia in the rabbit: II. Pathologic aspects. J Exp Med — PubMed:PMID19871499 | DOI:10.1084/jem.82.4.261 — OMIA Phene_Article / Article
- 1945. Hereditary achondroplasia in the rabbit: I. Physical appearance and general features. J Exp Med — PubMed:PMID19871498 | DOI:10.1084/jem.82.4.241 — OMIA Phene_Article / Article
- 1963. Morphogenetic studies of the rabbbit. XXXII. Qualitative skeletal variations induced by the ac gene (achondroplasia). Am J Anat — PubMed:PMID14042510 | DOI:10.1002/aja.1001130103 — OMIA Phene_Article / Article
- 1971. Organ-culture studies of achondroplastic rabbit cartilage: evidence for a metabolic defect in glucose utilization. J Embryol Exp Morphol — PubMed:PMID5556980 — OMIA Phene_Article / Article
- 1981. In vitro culture of rabbit growth plate chondrocytes. 2. Chondrodystrophic mutants. Growth — PubMed:PMID6458543 — OMIA Phene_Article / Article
- 1958. Genetic studies of the rabbit. Bibliographia Genetica — OMIA Phene_Article / Article
- 1969. Microscopic studies of achondroplastic rabbit cartilage. Teratology — PubMed:PMID5797691 | DOI:10.1002/tera.1420020103 — OMIA Phene_Article / Article