In other species: ducks , chicken

Categories: Limbs / fins / digit / tail phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 156830 (trait) , 251230 (trait) , 251450 (trait) , 601096 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: no

Cross-species summary: Also called micromelic syndrome. Abnormal smallness of one or more extremities.

Species-specific symbol: m

Species-specific description: This lethal mutant was discovered in several related populations maintained at the University of California, Davis.

History: This was the first mutation documented in quail.

Inheritance: Hill et al. (1963) presented convincing evidence for autosomal recessive inheritance.

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

Clinical features: Affected embryos of both sexes die after 11 to 16 days of incubation (18 days being the normal incubation time for quail). The head is short and broad, with bulging eyes. The lower mandible is markedly reduced, the upper beak is shortened and curved, giving a "parrot beak" appearance. The neck and trunk are broad, and the legs and wings are set far apart. There is general micromelia. In addition, the long bones of the legs, distal and proximal, are reduced to about half the normal length. The toes are also shortened. The long bones of the wings are reduced in length, similar to those of the leg. Embryos are usually coelosomic (absence of the sternum, with hernial protrusion of the viscera). (Adapted from Hill et al., 1963)