OMIA 001996-9986 : Achondroplasia-1 in Oryctolagus cuniculus

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."

References


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.

Edit History


  • Created by Frank Nicholas on 28 Apr 2016
  • Changed by Frank Nicholas on 28 Apr 2016
  • Changed by Frank Nicholas on 29 Apr 2016