OMIA:002427-9823 : Tuberous sclerosis, TSC1-related in Sus scrofa (pig) |
Categories: Neoplasm
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 605284 (gene) , 191100 (trait)
Mendelian trait/disorder: yes
Disease-related: yes
Key variant known: no
Species-specific description: This study involves 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
Breed:
Bama Xiang Zhu, China (Pig) (VBO_0012741).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| TSC1 | tuberous sclerosis 1 | Sus scrofa | 1 | NC_010443.5 (272685948..272636530) | TSC1 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002427-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2020 | Li, X., Hu, T., Liu, J., Fang, B., Geng, X., Xiong, Q., Zhang, L., Jin, Y., Liu, X., Li, L., Wang, Y., Li, R., Bai, X., Yang, H., Dai, Y. : |
| A Bama miniature pig model of monoallelic TSC1 mutation for human tuberous sclerosis complex. J Genet Genomics 47:735-742, 2020. Pubmed reference: 33612456. DOI: 10.1016/j.jgg.2020.11.005. |
Edit History
- Created by Imke Tammen2 on 17 Sep 2021
- Changed by Imke Tammen2 on 18 Dec 2023