OMIA:000587-9823 : Amelia in Sus scrofa (pig)
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.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Cite this entry
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2021||Jiang, Y., Cao, X., Wang, H. :|
|Comparative genomic analysis of a naturally born serpentized pig reveals putative mutations related to limb and bone development. BMC Genomics 22:629, 2021. Pubmed reference: 34454433. DOI: 10.1186/s12864-021-07925-3.|
|1982||Ollivier, L., Sellier, P. :|
|Pig genetics: a review Annales de Genetique et de Selection Animale 14:481-544, 1982.|
|1939||Johnson, D.H., Lush, J.L. :|
|"Legless", a new lethal in swine Genetics 24:79 only, 1939.|
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Imke Tammen2 on 28 Aug 2023