OMIA:001732-93934 : Chondrodystrophy-2 in Coturnix japonica (Japanese quail)

Categories: Skeleton phene (incl. short stature & teeth)

Links to MONDO diseases: No links.

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.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

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."

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2012). OMIA:001732-93934: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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