OMIA:002491-9823 : Amyotrophic lateral sclerosis, SOD1-related in Sus scrofa (pig) |
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).
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 |
|---|---|---|---|---|---|---|
| SOD1 | superoxide dismutase 1, soluble | Sus scrofa | 13 | NC_010455.5 (195326573..195335273) | SOD1 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002491-9823: 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.
| 2024 | Golia, M.T., Frigerio, R., Pucci, S., Sironi, F., Margotta, C., Pasetto, L., Testori, C., Berrone, E., Ingravalle, F., Chiari, M., Gori, A., Duchi, R., Perota, A., Bergamaschi, L., D'Angelo, A., Cagnotti, G., Galli, C., Corona, C., Bonetto, V., Bendotti, C., Cretich, M., Colombo, S.F., Verderio, C. : |
| Changes in glial cell activation and extracellular vesicles production precede the onset of disease symptoms in transgenic hSOD1 G93A pigs. Exp Neurol :S0014-4886(24)00042-6:114716, 2024. Pubmed reference: 38331161. DOI: 10.1016/j.expneurol.2024.114716. | |
| 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. | |
| 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. | |
| 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
- Changed by Imke Tammen2 on 18 Dec 2023