OMIA:001996-9986 : Achondroplasia-1 in Oryctolagus cuniculus (rabbit)
Categories: Skeleton phene (incl. short stature & teeth)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive lethal
Considered a defect: yes
Key variant known: no
Species-specific symbol: Initially ac; later (Robinson, 1958) ac-1
History: This mutant phenotype was first reported by Brown and Pearce in three papers in 1945.
Clinical features: 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."
As summarised by Robinson (1958; pp 340-341), "They are diminutive with clearly noticeably abbreviated limbs. The tail is short and fleshy while the nose appears flattened. The head is squarish with a depression across the base of the nose. The tongue is large and usually protrudes from between the teeth. Folding of the ears towards the face is not uncommonly found and a cleft palate may be present. The body appears relatively . large with a swollen and bulging abdomen. The skin is loose and occurs in folds around the regions of the shoulders and rump; while being tightly stretched across the distended belly. No cases of nakedness were observed although the fur appeared subnormally developed. Some deficiency of pigmentation was noted, the skin appearing greyish. A surprising feature was the absence of the usual signs of rigour mortis, contrasting with that of normal young discovered dead."
Cite this entry
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|1981||Webber, R.J., Fox, R.R., Sokoloff, L. :|
|In vitro culture of rabbit growth plate chondrocytes. 2. Chondrodystrophic mutants. Growth 45:269-78, 1981. Pubmed reference: 6458543 .|
|1972||Bargman, G.J., Mackler, B., Shepard, T.H. :|
|Studies of oxidative energy deficiency. I. Achondroplasia in the rabbit. Arch Biochem Biophys 150:137-46, 1972. Pubmed reference: 4337533 .|
|1971||Shepard, T.H., Bass, G.L. :|
|Organ-culture studies of achondroplastic rabbit cartilage: evidence for a metabolic defect in glucose utilization. J Embryol Exp Morphol 25:347-63, 1971. Pubmed reference: 5556980 .|
|1969||Shepard, T.H., Fry, L.R., Moffett, B.C. :|
|Microscopic studies of achondroplastic rabbit cartilage. Teratology 2:13-22, 1969. Pubmed reference: 5797691 . DOI: 10.1002/tera.1420020103.|
|1963||Crary, D.D., Sawin, P.B. :|
|Morphogenetic studies of the rabbbit. XXXII. Qualitative skeletal variations induced by the ac gene (achondroplasia) Am J Anat 113:9-23, 1963. Pubmed reference: 14042510 . DOI: 10.1002/aja.1001130103.|
|1958||Robinson, R. :|
|Genetic studies of the rabbit. Bibliographia Genetica 17:229–558, 1958.|
|1945||Brown, W.H., Pearce, L. :|
|Hereditary achondroplasia in the rabbit: I. Physical appearance and general features J Exp Med 82:241-60, 1945. Pubmed reference: 19871498 .|
|Pearce, L., Brown, W.H. :|
|Hereditary achondroplasia in the rabbit: III. Genetic aspects; general considerations J Exp Med 82:281-95, 1945. Pubmed reference: 19871500 .|
|Pearce, L., Brown, W.H. :|
|Hereditary achondroplasia in the rabbit: II. Pathologic aspects J Exp Med 82:261-80, 1945. Pubmed reference: 19871499 .|
- Created by Frank Nicholas on 28 Apr 2016
- Changed by Frank Nicholas on 28 Apr 2016
- Changed by Frank Nicholas on 29 Apr 2016