OMIA:002491-9823 : Amyotrophic lateral sclerosis, SOD1-related in Sus scrofa

Categories: Nervous system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 147450 (gene) , 105400 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Species-specific description: This phene includes references to studies involving genetically modified organisms (GMO).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SOD1 superoxide dismutase 1, soluble Sus scrofa 13 NC_010455.5 (195326573..195335273) SOD1 Homologene, Ensembl , NCBI gene


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 Kondo, T., Inoue, I., Umeyama, K., Watanabe, M., Matsunari, H., Uchikura, A., Nakano, K., Tsukita, K., Imamura, K., Nagashima, H., Inoue, H. :
A transgenic pig model with human mutant SOD1 exhibits the early pathology of amyotrophic lateral sclerosis. Lab Invest 103:100013, 2023. Pubmed reference: 37039150 . DOI: 10.1016/j.labinv.2022.100013.
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.
2019 Crociara, P., Chieppa, M.N., Vallino Costassa, E., Berrone, E., Gallo, M., Lo Faro, M., Pintore, M.D., Iulini, B., D'Angelo, A., Perona, G., Botter, A., Formicola, D., Rainoldi, A., Paulis, M., Vezzoni, P., Meli, F., Peverali, F.A., Bendotti, C., Trolese, M.C., Pasetto, L., Bonetto, V., Lazzari, G., Duchi, R., Perota, A., Lagutina, I., Quadalti, C., Gennero, M.S., Dezzutto, D., Desiato, R., Boido, M., Ghibaudi, M., Valentini, M.C., Caramelli, M., Galli, C., Casalone, C., Corona, C. :
Motor neuron degeneration, severe myopathy and TDP-43 increase in a transgenic pig model of SOD1-linked familiar ALS. Neurobiol Dis 124:263-275, 2019. Pubmed reference: 30471417 . DOI: 10.1016/j.nbd.2018.11.021.
2014 Chieppa, M.N., Perota, A., Corona, C., Grindatto, A., Lagutina, I., Vallino Costassa, E., Lazzari, G., Colleoni, S., Duchi, R., Lucchini, F., Caramelli, M., Bendotti, C., Galli, C., Casalone, C. :
Modeling amyotrophic lateral sclerosis in hSOD1 transgenic swine. Neurodegener Dis 13:246-54, 2014. Pubmed reference: 24157939 . DOI: 10.1159/000353472.
Yang, H., Wang, G., Sun, H., Shu, R., Liu, T., Wang, C.E., Liu, Z., Zhao, Y., Zhao, B., Ouyang, Z., Yang, D., Huang, J., Zhou, Y., Li, S., Jiang, X., Xiao, Z., Li, X.J., Lai, L. :
Species-dependent neuropathology in transgenic SOD1 pigs. Cell Res 24:464-81, 2014. Pubmed reference: 24577199 . DOI: 10.1038/cr.2014.25.

Edit History

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