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HGNC UniGene Nucleotide OMIM UCSC
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Symbol TSC1 contributors: mct/npt/shn - updated : 02-10-2015
HGNC name tuberous sclerosis 1
HGNC id 12362
  • mutations in the Drosophila Tsc1 cause a phenotype characterized by enhanced growth and increased cell size with no change in ploidy (
  • Tsc1 knockout mouse died around embryonic days 10.5-11.5, frequently associated with neural tube unclosure while Tsc1(+/-) mice developed renal and extra-renal tumors such as hepatic hemangiomas (
  • Tsc1 null embryos die at mid-gestation from a failure of liver development whereas Tsc1 heterozygotes develop kidney cystadenomas and liver hemangiomas at high frequency (
  • Mice with ventricular loss of Tsc1 had a median survival of 6 months and developed a dilated cardiomyopathy with the occurrence of scattered foci of enlarged ventricular myocytes (
  • Tsc1+/- mice show social and cognitive deficits in the absence of apparent cerebral pathology and spontaneous seizures (
  • cells with mutation in TSC1 are hypersensitive to endoplasmic reticulum stress and undergo apoptosis (