These Nf1flox mice possess loxP sites flanking exons 31-32 of the neurofibromatosis 1 gene (Nf1), and have applications in studying cancer, neural crest development and neurofibromatosis type I.
Luis F Parada, UT Southwestern Medical Center
Mutation in the human neurofibromin gene, NF1, is the cause of the autosomal dominant disorder Type I Neurofibromatosis. These mice possess loxP sites on either side of exons 31 and 32 of the targeted gene. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When these mutant mice are bred to mice that express Cre recombinase, resulting offspring will have exons 31 and 32 deleted in the cre-expressing tissue(s).
When bred to a strain with Cre recombinase expression in the developing neural tube (see Stock No. 009107 for example), this mutant mouse strain may be useful in studies of Type I Neurofibromatosis.
When bred to a strain with Cre recombinase expression in neuronal cells (see Stock No. 003966 for example), this mutant mouse strain may be useful in studies of cerebral cortex development and reactive astrogliosis.
When bred to a strain with Cre recombinase expression in endothelial cells (see Stock No. 008863 for example), this mutant mouse strain may be useful in studies of neural crest development.
When bred to B6.Cg-Tg(Prrx1-cre)1Cjt/J mice (Stock No. 005584), mesenchyme-specific cre-expression results in mice that exhibit an increase in the amount of connective tissue, as well as muscle dystrophy characterized by fibrosis, a reduced number of muscle fibers, and reduced muscle force.
When bred to mice carrying Tg(Mx1-cre)1Cgn (Stock No. 003556), interferon-induced Cre-mediated recombination results in a progressive myeloproliferative disorder.
This allele is also part of the MADM-TG,p53KO,NF1-flox strain (Stock No. 017530), which is a genetic mosaicism model for cancer.
In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for the strain above. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available.
A targeting vector containing a loxP site and a PGKNeo cassette was inserted upstream of exon 31. A second loxP site was inserted downstream of exon 32. The construct was electroporated into 129 derived R1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6 blastocysts. The resulting chimeric animals were crossed to C57BL/6 mice. The mice were then crossed to several other mutant lines. The combination mutant strain, with a mix of CD1, C57BL/6 and 129 genetic backgrounds, was crossed to C57BL/6J to separate the Nf1tm1Par allele.
|Allele Name||targeted mutation 1, Luis F Parada|
|Allele Type||Targeted (Conditional ready (e.g. floxed), No functional change)|
|Allele Synonym(s)||Nf1flox; Nf1flox|
|Gene Symbol and Name||Nf1, neurofibromin 1|
|Gene Synonym(s)||AW494271; Dsk9; Dsk9; Martin Hrabe de Angelis dark skin 9; Mhdadsk9; Mhdadsk9; NFNS; Nf-1; Nf-1; VRNF; WSS; dark skin 9; expressed sequence AW494271; neurofibromatosis 1; neurofibromin|
|Site of Expression||When mice carrying this allele are mated to a Synapsin I promoter driven Cre transgenic mouse strain, NF1 function is abated in most differentiated neuronal populations, resulting in abnormal development of the cerebral cortex.|
|Strain of Origin||(129X1/SvJ x 129S1/Sv)F1-Kitl<+>|
|Molecular Note||A loxP-neomycin selection cassette was inserted into intron 30 and a single loxP site was inserted into intron 32.|
|Mutations Made By|| |
Steven McKinnon, UT Southwestern Medical Center
When maintaining a live colony, these mice can be bred as homozygotes.
When using the Nf1flox mouse strain in a publication, please cite the originating article(s) and include JAX stock #017639 in your Materials and Methods section.
|Heterozygous for Nf1<tm1Par>|
The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided,
their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of
each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders
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