Mecp2^tm10.1Bird

A deletion was created to remove 41 bp from exon 4 (c.1157-1197 Delta41; coordinates refer to human e2 isoform). To match the human sequence more closely, human codon 385 (P), which is absent in the endogenous mouse gene, was inserted. The mutation that introduces a frameshift, foreign codons (HQPP) and premature stop codon after codon 385 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 34% of wild-type and protein expression 3%. (J:265095)