OMIA 002378-9823 : Parkinson disease, SNCA-related in Sus scrofa

In other species: Rhesus monkey

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 163890 (gene) , 127750 (trait) , 168601 (trait) , 605543 (trait)

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific description: Zhu et al. (2018) "attempted to model PD [Parkinson disease] by generating Guangxi Bama minipigs with three PD-causing missense mutations (E46K, H50Q and G51D) in SCNA using CRISPR/Cas9-mediated gene editing combining with somatic cell nuclear transfer (SCNT) technique. .... However, immunohistochemical analysis was not able to detect PD-specific pathological changes such as α-synuclein-immunopositive pathology and loss of SN dopaminergic neurons in the gene-edited minipigs at 3 months of age." (Genetically modified organism GMO)


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.
2021 Tanihara, F., Hirata, M., Otoi, T. :
Current status of the application of gene editing in pigs. J Reprod Dev 67:177-187, 2021. Pubmed reference: 33840678. DOI: 10.1262/jrd.2021-025.
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.
2018 Zhu, X.X., Zhong, Y.Z., Ge, Y.W., Lu, K.H., Lu, S.S. :
CRISPR/Cas9-mediated generation of Guangxi Bama minipigs harboring three mutations in α-synuclein causing Parkinson's disease. Sci Rep 8:12420, 2018. Pubmed reference: 30127453. DOI: 10.1038/s41598-018-30436-3.

Edit History

  • Created by Imke Tammen2 on 11 Aug 2021
  • Changed by Imke Tammen2 on 11 Aug 2021
  • Changed by Imke Tammen2 on 26 Dec 2021