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

Categories: Neoplasm

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

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).

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. For breeds in which a likely causal variant has been documented, see the variant table below

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