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

In other species: white-tufted-ear marmoset , crab-eating macaque , Rhesus monkey

Categories: Nervous system phene

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

Links to MONDO diseases: No links.

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 SNCA 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)

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

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SNCA synuclein alpha Sus scrofa 8 NC_010450.4 (129247724..129388307) SNCA Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002378-9823: 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 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
  • Changed by Imke Tammen2 on 18 Dec 2023