Stumpy limb--an embryonic lethal mutation in Japanese quail (Coturnix coturnix japonica)

An embryonic lethal mutant was found in Japanese quail and named "stumpy limb (SL)". All SL embryos died at pre-hatching stages, showing brachycephaly, a thickened neck, short upper and lower beaks, and short and thick extremities, while their body length was similar to that of the normal embryos. Observations on the skeleton revealed a globular skull, unusual curvature of the Processus palatinus maxillaris of the upper beak, and shortening and thickening of the appendicular bones. Some embryos showed a bending of the humerus, femur and/or tibiotarsus. Abnormality was more conspicuous in the leg bones than in the wing bones. No conspicuous differences were observed in the vertebrae between the SL and normal embryos. A genetic analysis suggested that the mutation is controlled by an autosomal recessive gene, for which the gene symbol sl was proposed.