OMIA 002147-9823 : Leigh syndrome in Sus scrofa

Possibly relevant human trait(s) and/or gene(s) (MIM number): 256000 (trait)

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific description: The case of this disorder in pigs reported by Quadalti et al. (2018) was produced via disruption of the SURF1 gene "in pig primary fibroblast cell lines using both TALENs and CRISPR/Cas9 genome editing systems, before finally generating SURF1-/- and SURF1-/+ pigs by Somatic Cell Nuclear Transfer (SCNT)". It is, therefore, a genetically-modified organism (GMO)


2018 Quadalti, C., Brunetti, D., Lagutina, I., Duchi, R., Perota, A., Lazzari, G., Cerutti, R., Di Meo, I., Johnson, M., Bottani, E., Crociara, P., Corona, C., Grifoni, S., Tiranti, V., Fernandez-Vizarra, E., Robinson, A.J., Viscomi, C., Casalone, C., Zeviani, M., Galli, C. :
SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype. Biochim Biophys Acta 1864:2131-2142, 2018. Pubmed reference: 29601977. DOI: 10.1016/j.bbadis.2018.03.021.

Edit History

  • Created by Frank Nicholas on 09 Apr 2018
  • Changed by Frank Nicholas on 09 Apr 2018