Overview

Also Known As:Tsc2^c-del3

These Tsc2^c-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.

Donating Investigator

David J. Kwiatkowski, Brigham and Women's Hospital

Genetic overview

Genetic Background	Generation

Tsc2^tm2.1Djk

Allele Type	Gene Symbol	Gene Name
Targeted (Conditional ready (e.g. floxed), No functional change)	Tsc2	tuberous sclerosis 2

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Research Applications

Cancer Research
Research Tools
Neurobiology Research

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Details

Detailed Description

These Tsc2^c-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.

Development

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.

Control Suggestions

Approximate Controls

101045 B6129SF2/J

Additional Information

Considerations for Choosing Controls

Selected References

Pollizzi K; Malinowska-Kolodziej I; Doughty C; Betz C; Ma J; Goto J; Kwiatkowski DJ. 2009. A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles. Hum Mol Genet 18(13):2378-87PubMed: 19357198 MGI: J:149326

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Genetics

Tsc2^tm2.1Djk

Allele Symbol: Tsc2^tm2.1Djk

Allele Name	targeted mutation 2.1, David J Kwiatkowski
Allele Type	Targeted (Conditional ready (e.g. floxed), No functional change)
Allele Synonym(s)	Tsc2^c-del3
Gene Symbol and Name	Tsc2, tuberous sclerosis 2
Gene Synonym(s)
Strain of Origin	129S4/SvJae
Chromosome	17
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.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Cancer Research
- Cre-lox System
  - loxP-flanked Sequences
Research Tools
- Cancer Research
  - Cre-lox System
- Cre-lox System
  - loxP-flanked Sequences
Neurobiology Research
- Cre-lox System
  - loxP-flanked Sequences

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Tsc2^tm2.1Djk/Tsc2^tm2.1Djk
involves: 129S4/SvJae * C57BL/6

normal phenotype

no abnormal phenotype detected
- Normal - mice had no phenotype, with survival out past 18 months, and normal breeding and behavioral characteristics

References

Pollizzi K; Malinowska-Kolodziej I; Doughty C; Betz C; Ma J; Goto J; Kwiatkowski DJ. 2009. A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles. Hum Mol Genet 18(13):2378-87PubMed: 19357198 MGI: J:149326

Additional - Tsc2^tm2.1Djk related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Standard PCR:Tsc2
- Genotyping resources and troubleshooting
Breeding Considerations

While maintaining a live colony, these mice are bred as homozygotes.
- Additional Breeding and Husbandry Support
Mating System
- Homozygote x Homozygote
Citation
When using the Tsc2^c-del3 mouse strain in a publication, please cite the originating article(s) and include MMRRC stock #37154 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

The Jackson Laboratory's Genotype Promise

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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Questions about Terms of Use

Licensing Information

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Also Known As:Tsc2c-del3

Donating Investigator

Genetic overview

Research Applications

Detailed Description

Development

Control Suggestions

Approximate Controls

Additional Information

Selected References

Tsc2tm2.1Djk

Allele Symbol: Tsc2tm2.1Djk

Disease Terms

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Mammalian Phenotype Terms by Genotype

Genotype: Tsc2tm2.1Djk/Tsc2tm2.1Djkinvolves: 129S4/SvJae * C57BL/6

normal phenotype

References

Additional - Tsc2tm2.1Djk related

Genotyping Protocols

Breeding Considerations

Mating System

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Also Known As:Tsc2^c-del3

Tsc2^tm2.1Djk

Allele Symbol: Tsc2^tm2.1Djk

Genotype: Tsc2^tm2.1Djk/Tsc2^tm2.1Djk
involves: 129S4/SvJae * C57BL/6

Additional - Tsc2^tm2.1Djk related