Transcriptional dysregulation in a Mecp2 methyl-binding domain point mutant model (Mecp2 G118E)

We recently identified a mutation in the methyl-binding domain of MECP2 (MECP2 G118E) in a male patient with Rett syndrome. To ask whether this mutation conferred similar molecular dysregulation as observed in previous mouse models of Rett syndrome, we generated a knockin mouse model of this mutation and collected the cortex for RNA-sequencing. Cortical tissue from Mecp2 G118E or litter-mate control wild-types were collected to isolate RNA. PolyA RNA-seq was performed from collected RNA and expression was analyzed for differential expression.