Mice with this X-linked floxed mutation of the methyl CpG binding protein 2 gene may be useful in neurological and developmental studies of Rett syndrome.
Adrian Bird, University of Edinburgh
These mice possess two functional loxP sites flanking exons 3-4 of the targeted gene on the X chromosome (the donating investigator reports that the middle loxP site is non-functional). Homozygous females and hemizygous males are viable and fertile. Northern blot analysis showed the expected mature transcript from the Mecp2lox locus as well as a transcript in which the beta-globin intron was unspliced. When these mutant mice are bred to mice that express Cre recombinase, resulting offspring will have exons 3-4 deleted in the cre-expressing tissue(s). Mice with this X-linked floxed mutation may be useful in neurological and developmental studies of Rett syndrome.
For example, when crossed to a strain expressing Cre recombinase in nervous tissue (see Stock No. 003771), this mutant mouse strain develops a neurological phenotype that mimics Rett syndrome.
When crossed to a strain expressing Cre recombinase in GABAergic neurons (see Stock No. 017535), these mice exhibit behaviors common to those seen in Rett Syndrome and Autism Spectrum Disorders.
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. 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.
|Allele Name||targeted mutation 1, Adrian Bird|
|Allele Type||Targeted (Conditional ready (e.g. floxed), No functional change)|
|Gene Symbol and Name||Mecp2, methyl CpG binding protein 2|
|Strain of Origin||129P2/OlaHsd|
|Molecular Note||Insertion of a neomycin resistance cassette into the gene introduced loxP sites that flank exons 3 and 4, and added an intron and polyadenylation signal from the human beta globin gene. From the mutated allele, Northern blot analysis detected the wild type mature transcript and also a transcript in which the beta globin intron was unspliced.|
|Mutations Made By|| |
Adrian Bird, University of Edinburgh
Mutant mice were bred to C57BL/6J mice to generate this congenic strain. When maintaining the live congenic colony, females homozygous for this X-linked mutation can be bred with males hemizygous for this X-linked mutation.
When using the Mecp2lox mouse strain in a publication, please cite the originating article(s) and include JAX stock #007177 in your Materials and Methods section.
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