OMIA:002492-9541 : Amyotrophic lateral sclerosis, TARDBP-related in Macaca fascicularis (crab-eating macaque)

In other species: Rhesus monkey , pig

Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 605078 (gene) , 612069 (trait)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Species-specific name: Uchida et al. (2015) "overexpressed wild-type human transactive response deoxyribonucleic acid-binding protein 43 [TARDBP] in spinal cords of cynomolgus monkeys ... by injecting adeno-associated virus vector into the cervical cord, and examined the phenotype using behavioural, electrophysiological, neuropathological and biochemical analyses. These monkeys developed progressive motor weakness and muscle atrophy with fasciculation in distal hand muscles ..." This phene includes references to studies involving 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

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TARDBP TAR DNA binding protein Macaca fascicularis 1 NC_052255.1 (211807889..211781147) TARDBP Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002492-9541: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.
2012 Uchida, A., Sasaguri, H., Kimura, N., Tajiri, M., Ohkubo, T., Ono, F., Sakaue, F., Kanai, K., Hirai, T., Sano, T., Shibuya, K., Kobayashi, M., Yamamoto, M., Yokota, S., Kubodera, T., Tomori, M., Sakaki, K., Enomoto, M., Hirai, Y., Kumagai, J., Yasutomi, Y., Mochizuki, H., Kuwabara, S., Uchihara, T., Mizusawa, H., Yokota, T. :
Non-human primate model of amyotrophic lateral sclerosis with cytoplasmic mislocalization of TDP-43. Brain 135:833-46, 2012. Pubmed reference: 22252998. DOI: 10.1093/brain/awr348.

Edit History

  • Created by Imke Tammen2 on 09 Jan 2022
  • Changed by Imke Tammen2 on 22 Sep 2023
  • Changed by Imke Tammen2 on 18 Dec 2023