These floxed mutant mice possess loxP sites flanking exons 17 and 18 of the Tsc1 gene. This mutant strain may be useful in tissue-specific studies including tuberous sclerosis or other hamartoma syndromes, regulation of the actin cytoskeleton and motility, cellular and organismal glucose homeostasis, cell growth responses, apoptosis regulation, and regulation of cell size.
David J. Kwiatkowski, Brigham and Women's Hospital
Genetic Background | Generation |
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?+N1pF2
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Allele Type | Gene Symbol | Gene Name |
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Targeted (Conditional ready (e.g. floxed), No functional change) | Tsc1 | tuberous sclerosis 1 |
Homozygous mice are viable, fertile, normal in size, have normal expression of hamartin (the targeted gene's protein product), have no growth or behavioral defects, and are devoid of tumors through age 18 months. This mutant carries a "floxed" allele of the endogenous gene. When combined with a mutant carrying a Cre recombinase gene under the control of a promoter of interest, exons 17 and 18 of Tsc1 are deleted in the tissue of interest. This mutant may be useful in many tissue-specific studies including tuberous sclerosis or other hamartoma syndromes, regulation of the actin cytoskeleton and motility, cellular and organismal glucose homeostasis, cell growth responses, apoptosis regulation, and regulation of cell size.
When bred to a strain expressing Cre recombinase in neuronal cells (see Stock No. 003966 for example), this mutant mouse strain may be useful in studies of tuberous sclerosis.
When bred to a strain expressing Cre recombinase in oocytes of the primordial follicles (see Stock No. 011062 for example), this mutant mouse strain may be useful in studies of primordial follicle quiescence and activation.
When bred to a strain expressing Cre recombinase in liver (see Stock No. 003574 for example), this mutant mouse strain may be useful in studies of hepatic lipid metabolism.
Importation of this model was supported by the Tuberous Sclerosis Alliance.
A targeting vector containing a loxP-flanked neomycin resistance-thymidine kinase gene cassette preceding exon 17 and a third loxP site downstream of exon 18 was electroporated into 129S4/SvJae derived J1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6J blastocysts. Chimeric mice were backcrossed for germ-line transmission to C57BL/6J, BALB/cJ, or 129/SvJae mice. The resulting heterozygotes were intercrossed to produce homozygotes on a mixed background.
Allele Name | targeted mutation 1, David J Kwiatkowski |
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Allele Type | Targeted (Conditional ready (e.g. floxed), No functional change) |
Allele Synonym(s) | Tsc1c; Tsc1fl; Tsc1flox; Tsc1L; Tsc1lox |
Gene Symbol and Name | Tsc1, tuberous sclerosis 1 |
Gene Synonym(s) | |
Strain of Origin | 129S4/SvJae |
Chromosome | 2 |
General Note | Phenotypic Similarity to Human Syndrome: Angiosarcoma/Lymphangiosarcoma J: 231316. |
Molecular Note | A floxed neo-TK cassette was inserted into the intron preceding exon 17 and a third loxP site was introduced downstream of exon 18 by homologous recombination. |
Mutations Made By | David Kwiatkowski, Brigham and Women's Hospital |
When maintaining a live colony, these mice are maintained as homozygotes.
When using the Tsc1c mouse strain in a publication, please cite the originating article(s) and include JAX stock #005680 in your Materials and Methods section.
Service/Product | Description | Price |
---|---|---|
Heterozygous for Tsc1<tm1Djk> |
Frozen Mouse Embryo | STOCK Tsc1<tm1Djk>/J Frozen Embryos | $2595.00 |
Frozen Mouse Embryo | STOCK Tsc1<tm1Djk>/J Frozen Embryos | $2595.00 |
Frozen Mouse Embryo | STOCK Tsc1<tm1Djk>/J Frozen Embryos | $3373.50 |
Frozen Mouse Embryo | STOCK Tsc1<tm1Djk>/J Frozen Embryos | $3373.50 |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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