Alternative Splicing Dysregulation Across Tissue Type and Therapeutic Treatment Approaches in the HSALR Mouse Model of Myotonic Dystrophy Type 1

The HSALR mouse model is a widely used model for pre-clinical screening of therapeutic options for myotonic dystrophy type 1 (DM1). This model mimics splicing dysregulation, muscle fiber abnormalities, and myotonia phenotypes found in DM1. Through combining publicly available paired-end RNA-seq data and data we generated, we performed an analysis of alternative splicing (AS) and gene expression across tissue type and therapeutic treatments in HSALR mice. We identified tissue specific differences in transgene expression, a correlation in transgene expression by tissue type and degree of AS dysregulation, a core set of common AS events, and AS events that were more readily rescued or more difficult to affect.