OMIA 001732-93934 : Chondrodystrophy-2 in Coturnix japonica

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: no

Species-specific symbol: ch-2

History: Hermes et al. (1990) were the first to report this disorder, which is different to the previous chondrodystrophy reported by Collins et al. (1968) in quail (see OMIA000189-93934)

Inheritance: Hermes et al. (1990) reported autosomal recessive inheritance.

Clinical features: As summarised by Hermes et al. (1990): "an overall shortening and bending of the long bones of the wings and legs, slight dwarfing of the trunk, bulging of the eyes, flattening of the head, and a parrot beak. The shortened long bones vary in regard to the amount of bending from nearly straight to bends of up to 90° in the midshaft region. In severe cases, the bend is evident as a protuberance of the skin. Affected embryos usually survive the 18-day incubation period. Several have hatched, but most survived no longer than 4 days after hatching. Only one female has survived long enough to lay eggs."

Reference


1990 Hermes, J.C., Abbott, U.K., Johnston, E., Owens, M. :
A New Chondrodystrophy Mutation in Japanese Quail (Coturnix- Japonica) Journal of Heredity 81:222-224, 1990. Pubmed reference: 2380548.

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  • Created by Frank Nicholas on 09 Nov 2012
  • Changed by Frank Nicholas on 09 Nov 2012