OMIA 002494-9823 : Muscle hypertrophy, FBXO40-related in Sus scrofa |
Possibly relevant human trait(s) and/or gene(s) (MIM number):
609107 (gene)
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).
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 |
References
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. Anim Biosci :, 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