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 mdx mutation in mice results in a truncated DMD protein. Homozygous females and hemizygous males develop the myopathic features of DMD; although the myopathology is less severe than the human disease course. The Tg(ACTA1-DMD*)326Dua transgene carries a deletion in the human dystrophin gene of repeat 4 through repeat 23 and the C-terminus (&#916 R4-23/&#916 C) under the control of the human skeletal alpha 1 actin (ACTA1) promoter. When the transgene is combined with the mdx allele, the donating investigator reports that homozygous mice exhibit restored skeletal muscle function and improved muscle histopathology as compared to mdx mice.

Mice homozygous/hemizygous for the spontaneous Dmdmdx allele and homozygous for the human micro-dystrophin (&#916 R4-23/&#916 C) transgene exhibit improved skeletal muscle function and muscle histopathology as compared to mdx mice 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.