OMIA:002427-9823 : Tuberous sclerosis, TSC1-related in Sus scrofa (pig)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: no
Species-specific description: This study involves genetically modified organisms (GMO).
Have human generated variants been created, e.g. through genetic engineering and gene editing
Bama Xiang Zhu, China (Pig) (VBO_0012741).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|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
|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.|
- Created by Imke Tammen2 on 17 Sep 2021