OMIA:002494-9823 : Muscle hypertrophy, FBXO40-related in Sus scrofa (pig)

Categories: Muscle phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 609107 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Considered a defect: no

Key variant known: no

Species-specific description: Zou et al. (2018) "generated FBXO40 knockout pigs using somatic cell nuclear transfer (SCNT) technology. CRISPR/Cas9 technology was combined with G418 selection, making it possible to generate donor cells at an efficiency of 75.86%. In muscle from FBXO40 knockout pigs, IRS1 levels were higher, and the IGF1/Akt pathway was stimulated. Mutant animals also had approximately 4% more muscle mass compared to WT controls. The knockout pigs developed normally and no pathological changes were found in major organs."

This phene includes references to studies involving genetically modified organisms (GMO).

Genetic engineering: Unknown
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
FBXO40 F-box protein 40 Sus scrofa 13 NC_010455.5 (138905410..138881528) FBXO40 Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:002494-9823: 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.

2022 Tu, C.F., Chuang, C.K., Yang, T.S. :
The application of new breeding technology based on gene editing in pig industry - A review. Anim Biosci 35:791-803, 2022. Pubmed reference: 34991204. DOI: 10.5713/ab.21.0390.
2018 Zou, Y., Li, Z., Zou, Y., Hao, H., Li, N., Li, Q. :
An FBXO40 knockout generated by CRISPR/Cas9 causes muscle hypertrophy in pigs without detectable pathological effects. Biochem Biophys Res Commun 498:940-945, 2018. Pubmed reference: 29545179. DOI: 10.1016/j.bbrc.2018.03.085.

Edit History

  • Created by Imke Tammen2 on 11 Jan 2022
  • Changed by Imke Tammen2 on 11 Jan 2022