STOCK Tsc1^tm1Djk/J

Stock number: 005680
Product name: Tsc1^c
Strain synonyms: Tsc1 flox
Research areas: Research Tools

Description

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.

Detailed description

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.

Development

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

Symbol: Tsc1^tm1Djk
Name: targeted mutation 1, David J Kwiatkowski
MGI accession ID: MGI:2656240
Generation method: Targeted
Attributes: Conditional ready (e.g. floxed); No functional change
Marker symbol: Tsc1
Marker name: tuberous sclerosis 1
Chromosome: 2
Strain of origin: 129S4/SvJae
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.
General note: Phenotypic Similarity to Human Syndrome: Angiosarcoma/Lymphangiosarcoma J: 231316.