OMIA:002361-9823 : Parkinson disease, PINK1-related in Sus scrofa (pig)
Categories: Nervous system phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: unknown
Considered a defect: unknown
Species-specific description: Wang et al. (2016) "expect to generate human Parkinson’s disease pig model using CRISPR/Cas9 system by simultaneously targeting three distinct genomic loci, parkin/DJ-1/PINK1, in Bama miniature pigs. ... The gene modified piglets remain healthy and display normal behavior at the age of 10 months."
Zhou et al. (2015) "applied Cas9/sgRNAs to effectively direct gene editing in porcine fetal fibroblasts and then mutant cell colonies were used as donor to generate homozygous gene-targeted pigs through single round of SCNT. As a result, we successfully obtained ... 20 PARK2 and PINK1 double-gene knockout (KO) pigs. They were all homozygous and no off-target mutagenesis was detected by comprehensive analysis. ... the expression of parkin and PINK1 were depleted in PARK2 (-/-)/PINK1 (-/-) pigs."
This phene includes references to studies involving genetically modified organisms (GMO).
Have human generated variants been created, e.g. through genetic engineering and gene editing
Bama Xiang Zhu, China (Pig) (VBO_0012741).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
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.
|2023||Qu, J., Liu, N., Gao, L., Hu, J., Sun, M., Yu, D. :|
|Development of CRISPR Cas9, spin-off technologies and their application in model construction and potential therapeutic methods of Parkinson's disease. Front Neurosci 17:1223747, 2023. Pubmed reference: 37483347. DOI: 10.3389/fnins.2023.1223747.|
|2021||Yang, W., Chen, X., Li, S., Li, X.J. :|
|Genetically modified large animal models for investigating neurodegenerative diseases. Cell Biosci 11:218, 2021. Pubmed reference: 34933675. DOI: 10.1186/s13578-021-00729-8.|
|Zhang, J., Khazalwa, E.M., Abkallo, H.M., Zhou, Y., Nie, X., Ruan, J., Zhao, C., Wang, J., Xu, J., Li, X., Zhao, S., Zuo, E., Steinaa, L., Xie, S. :|
|The advancements, challenges, and future implications of the CRISPR/Cas9 system in swine research. J Genet Genomics 48:347-360, 2021. Pubmed reference: 34144928. DOI: 10.1016/j.jgg.2021.03.015.|
|2016||Wang, X., Cao, C., Huang, J., Yao, J., Hai, T., Zheng, Q., Wang, X., Zhang, H., Qin, G., Cheng, J., Wang, Y., Yuan, Z., Zhou, Q., Wang, H., Zhao, J. :|
|One-step generation of triple gene-targeted pigs using CRISPR/Cas9 system. Sci Rep 6:20620, 2016. Pubmed reference: 26857844. DOI: 10.1038/srep20620.|
|2015||Zhou, X., Xin, J., Fan, N., Zou, Q., Huang, J., Ouyang, Z., Zhao, Y., Zhao, B., Liu, Z., Lai, S., Yi, X., Guo, L., Esteban, M.A., Zeng, Y., Yang, H., Lai, L. :|
|Generation of CRISPR/Cas9-mediated gene-targeted pigs via somatic cell nuclear transfer. Cell Mol Life Sci 72:1175-84, 2015. Pubmed reference: 25274063. DOI: 10.1007/s00018-014-1744-7.|
- Created by Imke Tammen2 on 25 Jun 2021
- Changed by Imke Tammen2 on 25 Jun 2021
- Changed by Imke Tammen2 on 11 Aug 2021
- Changed by Imke Tammen2 on 26 Dec 2021
- Changed by Imke Tammen2 on 09 Jan 2022