Duchenne muscular dystrophy (DMD) is a life-threatening neuromuscular disease caused by the lack of dystrophin, resulting in progressive muscle wasting and locomotor dysfunctions. By adulthood, almost all patients also develop cardiomyopathy, which is the primary cause of death in DMD. While there has been extensive effort in creating animal models to study treatment strategies for DMD, most fail to recapitulate the complete skeletal and cardiac disease manifestations that are presented in affected patients. Here, we generated a mouse model mirroring a patient deletion mutation of exons 52-54 (Dmd &[Delta]52-54). The Dmd &[Delta]52-54 mutation led to the absence of dystrophin, resulting in progressive muscle deterioration with weakened muscle strength. Moreover, Dmd &[Delta]52-54 present with early-onset cardiomyopathy which is absent in current pre-clinical dystrophin deficient mouse models. Therefore, Dmd &[Delta]52-54 presents itself as an excellent pre-clinical model to evaluate the impact on skeletal and cardiac muscles for both mutation dependent and independent approaches.

DNA extracted from the tail of a male Dmd del52-54 was utilized for whole genome sequencing (WGS), which was performed using the Illumina HiSeq X system (San Diego, CA) by The Centre for Applied Genomics (TCAG) at the Hospital for Sick Children.

Integrative Genomics Viewer (IGV) version 2.8.2 was used for analysis with GRCmm38/mm10 as the murine reference genome.