OMIA 002427-9823 : Tuberous sclerosis, TSC1-related in Sus scrofa

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 605284 (gene) , 191100 (trait)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Species-specific description: This study involves genetically modified organisms (GMO).

Breed: Bama miniature.

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

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.

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  • Created by Imke Tammen2 on 17 Sep 2021