In other species: dog , horse , taurine cattle

Categories: Limbs / fins / digit / tail phene

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: yes

Key variant known: no

Cross-species summary: Amelia is the congenital anomaly characterized by the complete absence of one or more limbs. Tetra-amelia is the absence of all for limbs. Phene was renamed from 'legless' to amelia [28/08/2023]

Species-specific name: legless

Species-specific description: Jiang et al. (2021) report a single piglet with missing hindlegs (amelia posterior). The authors did not perform an autopsy and conducted whole genome sequencing of the dam, the affected animal and an unaffected sibling.

Inheritance: Johnson and Lush (1939) provided convincing evidence of autosomal recessive inheritance of absence of all four limbs as a lethal disorder in pigs.

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