OMIA:002147-9823 : Leigh syndrome, SURF1-related in Sus scrofa (pig)

Categories: Muscle phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 256000 (trait) , 185620 (gene) , 220110 (trait)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

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)

Genetic engineering: Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SURF1 surfeit 1 Sus scrofa 7 NC_010449.5 (56267719..56263770) SURF1 Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002147-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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 Tanihara, F., Hirata, M., Otoi, T. :
Current status of the application of gene editing in pigs. J Reprod Dev 67:177-187, 2021. Pubmed reference: 33840678. DOI: 10.1262/jrd.2021-025.
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
  • Changed by Imke Tammen2 on 26 Dec 2021
  • Changed by Imke Tammen2 on 18 Dec 2023