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OMIA:002748-9823 : Parkinson disease, PRKN-related in Sus scrofa (pig)

Categories: Nervous system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 602544 (gene) , 600116 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Cross-species summary: PRKN is also called Parkin, or PARK2

Species-specific description: Wang et al. (2023) generated "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." This study involves 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. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PRKN parkin RBR E3 ubiquitin protein ligase Sus scrofa 1 NC_010443.5 (5698508..6731132) PRKN Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002748-9823: 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.
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.

Edit History


  • Created by Imke Tammen2 on 13 Aug 2023
  • Changed by Imke Tammen2 on 13 Aug 2023
  • Changed by Imke Tammen2 on 18 Dec 2023