CRISPR/Cas9-mediated genome editing holds clinical potential for treating genetic diseases, such as Duchenne muscular dystrophy (DMD), which is caused by mutations in the dystrophin gene. In vivo AAV-mediated delivery of gene-editing components machinery has been shown to successfully remove mutant sequence to generate an exon skipping in the cardiac and skeletal muscle cells of postnatal mdx mice, a model of DMD. Using different modes of AAV9 delivery, the restoration of dystrophin protein expression in cardiac and skeletal muscle of mdx mice was achieved. Here, a humanized mouse model for DMD is created to help test the efficacy of genome editing to cure DMD. Additionally, to facilitate the analysis of exon skipping strategies in vivo in a non-invasive way, a reporter luciferase knock-in version of the mouse model was prepared. These humanized mouse models provide the ability to study correcting of mutations responsible for DMD in vivo.
