Genotype and Phenotype Data
- TSC1 and TSC2 Genetic Variation Databases
- TSC Natural History Database Project
- Rare Epilepsy Network (REN)
Animal Models of TSC
TSC Preclinical Consortium
The TSC Preclinical Consortium has implemented standardized testing in several models covering different aspects of TSC. Researchers in academia, industry, and nonprofit organizations may nominate compounds for testing in these models.
Tsc1 Knockout Mice Available Through NCI
Tsc1 knockout mice developed and characterized in the David Kwiatkowski, MD, PhD laboratory at Brigham & Women’s University in Boston are now available through the shared National Cancer Institute animal facility in Frederick, Maryland. Additional information regarding the phenotype of these mice (Strain Number 01XH8) can be found on the NCI Mouse Repository website.
Tsc2 and Tsc1 Knockout Mice Available at the Jackson Laboratory
Tsc2 knockout mice have been transferred from Dr. David Kwiatkowski’s laboratory at the Brigham & Women’s Hospital to The Jackson Laboratory. Homozygous KO mice exhibit embryonic lethality by E12.5 due to hepatic hypoplasia. All heterozygotes develop bilateral renal cystadenomas and liver hemangiomas by 15 months of age, and some exhibit extremity angiosarcomas or renal carcinoma. Additional information regarding the phenotype of these mice can be found at the Jackson Laboratory website (Stock number 004686).
Transgenic mice expressing a dominant-negative mouse Tsc2 gene have been transferred from Jack Arbiser’s laboratory at Emory University. These mice develop skin and brain hamartomas with aggregates of granular cells at the surface cerebellum and collagenous fibrovascular proliferations containing abundant mast cells in the skin. Additional information regarding the phenotype of these mice can also be found at the Jackson Laboratory website (Stock number 014564).
Dr. Kwiatkowski also transferred his floxed-Tsc1 mutant mice to The Jackson Laboratory. When bred to a strain expressing Cre recombinase, Tsc1 expression is abolished in the tissue of interest. Tsc1-deficient mice exhibit growth defects, behavioral defects, premature death, neurological defects, and abnormal cardiac morphology, as seen in tuberous sclerosis complex, depending on the tissue affected. Additional information regarding the phenotype of these mice can be found at the Jackson Laboratory website (Stock number 005680).