|
| 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 ( |