Duchenne muscular dystrophy (DMD) is a progressive muscular disorder caused by an imbalance between muscle degeneration and regeneration resulting in muscle degeneration, necrosis, accumulation of fat and fibrosis, and insufficient regeneration/loss of myofibers. The genetic cause of DMD are mutations of the dystrophin muscular dystrophy gene (DMD) on the X chromosome. The Dmdmdx mutation in mice has a termination codon in exon 23 that is predicted to result in a truncated protein. Heterozygous females are viable and fertile with no gross phenotypic abnormalities. Homozygous females and hemizygous males are viable and fertile with myopathic features of DMD; although the myopathology is both less severe than the human disease course and variable by mouse strain genetic background.
The donating investigator indicates that mice on the C57BL/6 background exhibit the classic pathology and muscle force reduction observed in the original C57BL/10 background. The muscle pathology includes active fiber necrosis, cellular infiltration, a wide range of fiber sizes, and numerous centrally nucleated regenerating fibers.

These spontaneous Dmdmdx mutant mice do not express dystrophin and may be useful for studying Duchenne muscular dystrophy.

This strain is hosted by NIH's MMRRC, which partners with JAX for the distribution of this and other strains. For additional information and to purchase, please visit the MMRRC site.