OMIA 002492-9823 : Amyotrophic lateral sclerosis, TARDBP-related in Sus scrofa

In other species: crab-eating macaque , Rhesus monkey

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 605078 (gene) , 612069 (trait)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Species-specific description: Wang et al. (2015): "TAR DNA-binding protein 43 (TDP-43) [also called TARDBP] is a nuclear protein, but it is redistributed in the neuronal cytoplasm in both amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). ... We established transgenic pigs expressing mutant TDP-43 (M337V). This pig model shows severe phenotypes and early death."

This phene includes references to studies involving genetically modified organisms (GMO).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TARDBP TAR DNA binding protein Sus scrofa 6 NC_010448.4 (71213584..71227707) TARDBP Homologene, Ensembl, NCBI gene

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.
2021 Bonifacino, T., Zerbo, R.A., Balbi, M., Torazza, C., Frumento, G., Fedele, E., Bonanno, G., Milanese, M. :
Nearly 30 years of animal models to study amyotrophic lateral sclerosis: A historical overview and future perspectives. Int J Mol Sci 22:12236, 2021. Pubmed reference: 34830115. DOI: 10.3390/ijms222212236.
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.
2015 Wang, G., Yang, H., Yan, S., Wang, C.E., Liu, X., Zhao, B., Ouyang, Z., Yin, P., Liu, Z., Zhao, Y., Liu, T., Fan, N., Guo, L., Li, S., Li, X.J., Lai, L. :
Cytoplasmic mislocalization of RNA splicing factors and aberrant neuronal gene splicing in TDP-43 transgenic pig brain. Mol Neurodegener 10:42, 2015. Pubmed reference: 26334913. DOI: 10.1186/s13024-015-0036-5.

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  • Created by Imke Tammen2 on 09 Jan 2022
  • Changed by Imke Tammen2 on 09 Jan 2022