A mouse model of tuberous sclerosis 1 showing background specific early post-natal mortality and metastatic renal cell carcinoma.

@article{Wilson2005AMM,
  title={A mouse model of tuberous sclerosis 1 showing background specific early post-natal mortality and metastatic renal cell carcinoma.},
  author={Catherine P. Wilson and Shelley Idziaszczyk and Lee Parry and Carol A Guy and David F. Griffiths and Edward Lazda and Rosemary A. L. Bayne and Andrew J. H. Smith and Julian R. Sampson and Jeremy P. Cheadle},
  journal={Human molecular genetics},
  year={2005},
  volume={14 13},
  pages={1839-50}
}
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in either the TSC1 or the TSC2 genes and characterized by the development of benign hamartomatous growths in multiple organ systems. We have inactivated Tsc1 in the mouse germ line by gene targeting in ES cells and confirmed that the mutant allele (Tsc1-) has a recessive embryonic lethal phenotype. We found that a significant number (approximately 27%) of heterozygous (Tsc1+/-) mice on the C57BL/6 background… CONTINUE READING
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