These Tsc2c-del3 mutant mice possess loxP sites flanking exon 3 of the tuberous sclerosis 2 (Tsc2) gene, a tumor growth suppressor. Mutations in Tsc2 are associated with tuberous sclerous complex (TSC). TSC is an autosomal dominant genetic disease characterized by the development of hamartomas in multiple organ systems. These benign tumors form in the brain and other vital organs resulting in seizures, developmental delay, autism , skin abnormalities and lung and kidney disease. Mice that are homozygous for this allele are viable, fertile, and normal in size. When bred to mice that express tissue-specific Cre recombinase, resulting offspring will have exon 3 deleted in the cre-expressing tissues. This strain may be useful for studying TSC disease.

These Tsc2c-del3 mutant mice possess loxP sites flanking exon 3 of the tuberous sclerosis 2 (Tsc2) gene. Tsc2 encodes a tumor growth suppressor associated with tuberous sclerous complex (TSC), an autosomal dominant genetic disease characterized by the development of hamartomas in multiple organ systems.

This strain is hosted by NIH's MMRRC, which partners with JAX for the distribution of this and other strains. For additional information and to purchase, please visit the MMRRC site.