Cell-type-specific dysregulation of RNA alternative splicing in short tandem repeat mouse knockin models of myotonic dystrophy

In this study, Nutter et al. use rolling circle amplification and CRISPR/Cas9-mediated genome editing to generate Dmpk CTG expansion (CTGexp) mouse knockin models of myotonic dystrophy type 1 (DM1). Their results highlight important interplays between Dmpk and Mbnl expression patterns with CTGexp length and missplicing and also demonstrate that splicing regulation in the choroid plexus, which is responsible for the bulk of cerebral spinal fluid (CSF) production, is adversely affected by CTGexp mutations.