OMIA:000189-93934 : Chondrodystrophy 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 lethal
Considered a defect: yes
Key variant known: no
Species-specific symbol: ch
History: This disorder was first reported by Collins et al. (1968)
Inheritance: Collins et al. (1968) reported autosomal recessive inheritance, with embryonic lethality.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: As reported by Collins et al. (1968), "a normally shaped head and neck, and normal eyes. The upper mandible was shortened and sometimes curved. The lower mandible was deformed and markedly shortened and occasionally absent. The limbs were shortened and the tibiae and tarso-metatarsi bent. Ventral body surface hemorrhages were frequently present." They also reported that the trait is "lethal at 8 to 10 days of incubation."
Cite this entry
|1968||Collins, W.M., Abplanalp, H., Yoshida, S. :|
|Early embryonic chondrodystrophy in Japanese quail. J Hered 59:248-50, 1968. Pubmed reference: 5708631.|
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 09 Nov 2012