OMIA:002492-9823 : Amyotrophic lateral sclerosis, TARDBP-related in Sus scrofa (pig)
Categories: Nervous system phene
Links to MONDO diseases: No links.
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).
Have human generated variants been created, e.g. through genetic engineering and gene editing
|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|
Cite this entry
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||Zhu, L., Li, S., Li, X.J., Yin, P. :|
|Pathological insights from amyotrophic lateral sclerosis animal models: comparisons, limitations, and challenges. Transl Neurodegener 12:46, 2023. Pubmed reference: 37730668. DOI: 10.1186/s40035-023-00377-7.|
|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.|
- Created by Imke Tammen2 on 09 Jan 2022
- Changed by Imke Tammen2 on 09 Jan 2022
- Changed by Imke Tammen2 on 22 Sep 2023