| Primary Identifier | MGI:6199493 | Allele Type | Targeted |
| Attribute String | Humanized sequence | Gene | Mecp2 |
| Transmission | Germline | Strain of Origin | 129P2/OlaHsd |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | A deletion was created to remove 44 bp from exon 4 (c.1164-1207 Delta44; coordinates refer to human e2 isoform). To match the human sequence more closely, human codons 385 and 386 (PL), which are absent in the endogenous mouse gene, were inserted. The mutation that introduces a frameshift and premature stop codon after codon 388 in human patients, was also created. This mutation is associated with human Rett syndrome. The loxP site flanked neomycin resistance gene and STOP cassette that was inserted into intron 2 was removed through subsequent cre-mediated recombination. The mRNA levels and protein expression from this allele are equivalent to wild-type. |
