Most embryos that are homozygous for this targeted mutation fail between embryonic days 6.5 and 7.0. Heterozygotes develop a variety of malignant tumors over the course of 10-30 months, including osteosarcoma (63%), lymphoma (15%), lung adenocarcinoma (10%), hepatocellular carcinoma (9%), and fibrosarcoma (9%). This strain may be useful in studies of embryonic development and cancer.
Dr. Tyler Jacks, Massachusetts Institute of Technology
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
---|---|---|
Targeted (Null/Knockout) | Nf2 | neurofibromin 2 |
Most embryos that are homozygous for this targeted mutation fail between embryonic days 6.5 and 7.0, exhibiting a collapsed extraembryonic region and the absence of organized extraembryonic ectoderm. The embryo proper continues to develop, but fails to initiate gastrulation. Heterozygotes develop a variety of malignant tumors over the course of 10-30 months, including osteosarcoma (63%), lymphoma (15%), lung adenocarcinoma (10%), hepatocellular carcinoma (9%), and fibrosarcoma (9%). A high rate of metastasis to distant sites such as the lung and liver was found. Schwannomas, meningiomas and ependymomas were not detected. RT-PCR analysis and sequencing of the product have shown that a mutant form of mRNA is transcribed and spliced. Immunoblotting fails to detect any full-length or shortened protein products, however. This strain may be useful in studies of embryonic development and cancer.
A targeting vector was designed to replace the 3' half of exon 2, all of exon 3, and the intervening intronic sequences with a neomycin resistance gene in opposite orientation. The targeting vector was electroporated into 129S2/SvPas-derived D3 embryonic stem (ES) cells. Resultant chimeric animals were crossed with C57BL/6. The strain was been maintained on a mixed 129S2/SvPas and C57BL/6 mixed background by the donating laboratory.
Allele Name | targeted mutation 1, Tyler Jacks |
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Allele Type | Targeted (Null/Knockout) |
Allele Synonym(s) | Merlin-; Nf2-; Nf2KO2-3 |
Gene Symbol and Name | Nf2, neurofibromin 2 |
Gene Synonym(s) | |
Strain of Origin | 129S2/SvPas |
Chromosome | 11 |
Molecular Note | The 3' half of exon 2, all of exon 3 and intervening sequences were replaced by a neomycin cassette inserted in the reverse transcriptional orientation to the gene. RT-PCR analysis demonstrated that an aberrant transcript was expressed from this allele that spliced exon 1 to exon 5. However, immunoblot analysis on extracts derived from homozygous ES cells demonstrated that no stable mutant protein was detectable. |
Mutations Made By | Dr. Tyler Jacks, Massachusetts Institute of Technology |
When maintained as a live colony, heterozygotes may be bred.
When using the B6;129S2-Nf2tm1Tyj/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #008190 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous or Wild-type for Nf2<tm1Tyj> |
Frozen Mouse Embryo | B6;129S2-Nf2<tm1Tyj>/J | $2595.00 |
Frozen Mouse Embryo | B6;129S2-Nf2<tm1Tyj>/J | $2595.00 |
Frozen Mouse Embryo | B6;129S2-Nf2<tm1Tyj>/J | $3373.50 |
Frozen Mouse Embryo | B6;129S2-Nf2<tm1Tyj>/J | $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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