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Type Congenic; Mutant Strain; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse Generation N7+N1F2pN1 Donating Investigator Sonia Pearson-White, Description
Mice homozygous for this targeted mutation (called "Snoex1" in the primary reference) are viable and fertile with no reported gross morphological defects. Although the deletion of exon 1 leads to complete absence of the mature full-length protein in immunoblots of brain and embryonic tissues, a truncated 3'-end RNA species is derived from downstream coding sequence. Homozygotes exhibit T cell proliferation/activation defects, which can be rescued by treatment with anti-TGF-beta antibodies or exogenous interleukin-2. Homozygous deletion also results in increased sensitivity to TGF-beta and altered growth properties of cultured mouse embryo fibroblasts (MEFs). These mutant mice may be useful in studies of T cell activation, T cell receptor stimulation and TGF-beta signaling.Development
A targeting vector was designed to replace exon 1 of the endogenous gene with a lacZ gene (with a nuclear localization signal) and a loxP-flanked PGK-neo cassette. This construct was microinjected into (129X1/SvJ x 129S1/Sv)F1-derived R1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6 blastocysts, which were then implanted into pseudopregnant foster mothers, resulting in heterozygous offspring. Prior to their arrival at The Jackson Laboratory these mice were backcrossed to C57BL/6 for seven generations.
| Control | ||
|---|---|---|
| 000664 C57BL/6J | ||
| Considerations for Choosing Controls | ||
lacZ Expression Strains
View lacZ Expression Strains (186 strains)
Fluorescent Proteins/lacZ Systems
View Mammalian Phenotype Terms
Mammalian Phenotype Terms
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Skiltm2Spw/Skiltm2Spw
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)
- tumorigenesis
- *normal* tumorigenesis (MGI Ref ID J:84554)
- no significant increase in the incidence of somatic tumors up to 2 years of age
- immune system phenotype
- *normal* immune system phenotype (MGI Ref ID J:84554)
- T-cell subpopulations from thymus and spleen unchanged from wild type T-cell subpopulations from thymus and spleen unchanged from wild-type
- decreased T cell proliferation (MGI Ref ID J:84554)
- reduced T-cell activation in response to receptor stimulation
- proliferation was normal when stimulation bypassed early steps in activation
- IL-2 reverses proliferation defects
- effect probably due in part to reduced antagonism of TGF-beta signaling
- hematopoietic system phenotype
- decreased T cell proliferation (MGI Ref ID J:84554)
- reduced T-cell activation in response to receptor stimulation
- proliferation was normal when stimulation bypassed early steps in activation
- IL-2 reverses proliferation defects
- effect probably due in part to reduced antagonism of TGF-beta signaling
View Research Applications
Research Applications
This mouse can be used to support research in many areas including:
Cell Biology Research
Genes Regulating Growth and Proliferation
Immunology and Inflammation Research
Growth Factors/Receptors/Cytokines
Immunodeficiency
T cell deficiency
Internal/Organ Research
Lymphoid Tissue Defects
T cell deficiency
Research Tools
lacZ Expression
Cancer Research
T cell deficiency
Cell Biology Research
Immunology and Inflammation Research
T cell deficiency
| Allele Symbol | Skiltm2Spw | ||
|---|---|---|---|
| Allele Name | targeted mutation 2, Sonia Pearson-White | ||
| Allele Type | Targeted (Reporter) | ||
| Common Name(s) | Snoex1-/-; | ||
| Mutation Made By | Sonia Pearson-White, | ||
| Strain of Origin | (129X1/SvJ x 129S1/Sv)F1-Kitl<+> | ||
| ES Cell Line Name | R1 | ||
| ES Cell Line Strain | (129X1/SvJ x 129S1/Sv)F1-Kitl<+> | ||
| Site of Expression | lacZ expression patterns have not been characterized. | ||
| Gene Symbol and Name | Skil, SKI-like | ||
| Chromosome | 3 | ||
| Gene Common Name(s) | 9130011J04Rik; RIKEN cDNA 9130011J04 gene; SNO; Skir; SnoA; SnoI; SnoN; SnoN2; ski/sno related; sno-dE3; | ||
| Molecular Note | Exon 1 was replaced with a lacZ gene together with a floxed neomycin gene construct. Full length mRNA transcript is reduced below detectable levels in homozygotes although truncated mRNA was produced. No full length protein from these mRNAs was detectable on immunoblots. [MGI Ref ID J:84554] | ||
Genotyping Protocols
Skiltm2Spw, Standard PCR
Helpful Links
Genotyping resources and troubleshooting
Pearson-White S; McDuffie M. 2003. Defective T-cell activation is associated with augmented transforming growth factor Beta sensitivity in mice with mutations in the Sno gene. Mol Cell Biol 23(15):5446-59. [PubMed: 12861029] [MGI Ref ID J:84554]
Colony Maintenance
Breeding & Husbandry When maintaining a live colony, these mice may be bred as homozygotes.
| Pricing for USA, Canada and Mexico shipping destinations |
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Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
| Pricing for International shipping destinations |
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Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
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| Supply Notes |
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| Control | ||
|---|---|---|
| 000664 C57BL/6J | ||
| Considerations for Choosing Controls | ||
| USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
| International - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
Purchasing Information
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Contact Information
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| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
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