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OMIA:002361-9823 : Parkinson disease, PINK1-related in Sus scrofa (pig)

In other species: crab-eating macaque , Rhesus monkey

Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 608309 (gene) , 605909 (trait)

Mendelian trait/disorder: unknown

Disease-related: 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).

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

Breed: Bama Xiang Zhu, China (Pig) (VBO_0012741).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002361-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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.

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.

Edit History


  • 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
  • Changed by Imke Tammen2 on 18 Dec 2023