Reduced Sperm Counts in Mice with Dmd Exon 51 Frameshift Mutations

Background/Objectives: Duchenne muscular dystrophy (DMD) is caused by frameshift mutations in the DMD gene encoding dystrophin. Beyond skeletal muscle, dystrophin’s full and shortened isoforms are expressed in non-muscle tissues, including the male reproductive system, where it is reported to engage in spermatogenesis, sperm motility and overall fertility in patients and mouse models. We have previously generated two genetically modified mouse strains carrying insertions (insT or insG) in exon 51 of the Dmd gene to model DMD. Here, we characterize male fertility and related reproductive phenotypes in both strains.