Mecp2^tm12.1Bird

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 as closely as possible, human codons 385 and 386 (PL), which are absent in the endogenous mouse gene, were inserted and single point mutations were engineered to change three codons that differ between mouse and human to the human codons (p.T376P, p.M380V and p.S387P). 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 from this allele are lower than wild-type and protein expression is at around 7%. (J:265095)