MECP2 (methyl CpG binding protein 2) is an X-linked transcriptional repressor that binds to methylated CpG dinucleotides. Loss of function causes the progressive neurological disorder Rett Syndrome (RTT). Conversely, duplication or triplication of the chromosomal region causes an equally wide-ranging progressive neurological disorder, MECP2 duplication syndrome, whose features overlap somewhat with RTT.
This transgenic strain expresses full-length human MECP2 carrying an R306C mutation in the transcriptional repression domain (TRD) fused to EGFP. Immunofluorescent methods using anti-MECP2 and anti-GFP antibodies reveal expression patterns throughout the brain that parallel those of the endogenous gene. Transgene expression levels are similar to those of the endogenous X-linked mouse gene.
Hemizygous mice demonstrate no overt phenotype (normal lifespan, body weight, and brain size) on their own, but when put on a Mecp2-/y background (see Stock No. 005439), they model Rett syndrome with a milder phenotype than the Mecp2 null mice. Compound mutant mice have a shortened lifespan with 50% lethality at 18 weeks (as compared to 11 weeks in Mecp2 null mice) and have smaller brains, motor dysfunction, learning disabilities, increased anxiety, and hypoactivity.
