Anatomical Phenotyping of Rett Syndrome in the Mouse

Jacob Ellegood¹, Jason P. Lerch¹, R Mark Henkelman¹

Rett Syndrome is an X-linked disorder, which primarily affects females, and is caused by mutations to the Mecp2 gene. A commonly used mouse model of RTT involves a truncation of the Mecp2 gene at codon 308. The purpose of this study was to examine the volume changes in the Mecp2³⁰⁸ Rett syndrome mouse model with high resolution MRI. Volume changes were found in many regions, for example, significant decreases were found in the cerebral cortex as well as increases in the cerebellar cortex and ventricles.