Primary Identifier | MGI:5568206 | Allele Type | Targeted |
Attribute String | Humanized sequence | Gene | Mecp2 |
Transmission | Germline | Strain of Origin | 129/SvJ |
Is Recombinase | false | Is Wild Type | false |
molecularNote | The targeting vector was created by using site-directed mutagenesis to introduce an AGA-->TGA (arginine-->stop) substitution into amino acid 168 in exon 4. The nonsense point mutation creates an R168X amino acid substitution in the methyl-CpG binding domain. This mutation corresponds to one of the most common MeCP2 mutations associated with human Rett syndrome. The targeting vector also inserted a loxP-flanked neomycin resistance cassette (neo). Cre-mediated recombination removed the floxed neo cassette. The substitution was confirmed by sequencing. |