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Symbol TSC2 contributors: mct/pgu/shn - updated : 30-07-2014
HGNC name tuberous sclerosis 2
HGNC id 12363
  • homozygous state of Tsc2(Ek/Ek) mutation Eker rat model is lethal in mid-gestation displaying dysraphia and papillary overgrowth of the neuroepithelium (
  • Rats with a germline inactivation of one allele of the Tsc2 tumor suppressor gene developed early onset severe bilateral polycystic kidney disease (
  • mutations in the Drosophila Tsc2 cause a phenotype characterized by enhanced growth and increased cell size with no change in ploidy (
  • mice with a heterozygous, inactivating mutation in the Tsc2 gene (Tsc2(+/-) mice) show deficits in learning and memory (
  • mouse selectively deleted for the Tsc2 gene from radial glial progenitor cells in the developing cerebral cortex and hippocampus are severely runted, develop post-natal megalencephaly and die between 3 and 4 weeks of age with cortical and hippocampal lamination defects, hippocampal heterotopias, enlarged dysplastic neurons and glia, abnormal myelination and an astrocytosis (
  • Embryos homozygous for the del3 allele survive until E13.5, 2 days longer than Tsc2 null embryos (die from underdevelopment of the liver, deficient hematopoiesis, aberrant vascular development and hemorrhage. Mice heterozygous for the del3 allele have a markedly reduced kidney tumor burden in comparison with conventional Tsc2+/
  • mice
  • cells with mutation in TSC2 are hypersensitive to endoplasmic reticulum stress and undergo apoptosis (