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.
David J. Kwiatkowski, Brigham and Women's Hospital
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.
The targeting vector contains a loxP site upstream of exon 3 and a loxP -flanked PGKneo cassette downstream of exon 3. Exon 3 encodes the 37 amino acids near the N terminus of the protein. The construct was electroporated into 129S4/SvJae-derived J1 embryonic stem (ES) cells. One ES clone was subjected to transient cre expression to remove the neo cassette. Correctly targeted ES cells were injected into recipient blastocysts. The resulting chimeric animals were crossed to C57BL/6 mice and the colony was by maintained sib-mating. Upon arrival, mice were bred to C57BL/6J for at least 1 generation to establish the colony.
|Allele Name||targeted mutation 2.1, David J Kwiatkowski|
|Allele Type||Targeted (Conditional ready (e.g. floxed), No functional change)|
|Gene Symbol and Name||Tsc2, tuberous sclerosis 2|
|Strain of Origin||129S4/SvJae|
|Molecular Note||A loxP and a loxP-neo-loxP cassette flanked exon 3 of Tsc2 which consists of 111 bp, encoding 37 amino acids near the N terminus of the protein (note that in some schemes this is counted as exon 4; however in accordance with human TSC2 gene, it is denoted this as exon 3, labeling a 5' untranslated exon as 1a). The neo cassette was removed in ES cells by transient cre expression leaving exon 3 floxed.|
While maintaining a live colony, these mice are bred as homozygotes.
When using the Tsc2c-del3 mouse strain in a publication, please cite the originating article(s) and include MMRRC stock #37154 in your Materials and Methods section.