Functional analysis of dystrophin isoforms using DMD-null mice

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The Duchenne muscular dystrophy (DMD) gene encodes dystrophin, which is a protein defective in DMD patients, as well as a number of shorter isoforms, which have been shown to be expressed in various non-muscle tissues. As of yet, the physiological function of the various dystrophin isoforms is not fully understood. In the present study, we investigated phenotypic alterations appeared in the DMD-null mice, where expression of all dystrophin isoforms had been totally disrupted. The MID -null mice were viable but displayed severe muscular hypertrophy and dystrophy, and also male sterility. In addition, we found that vomeronasal axons in the DMD-null mice are defasciculated, and some of the defasciculated vomeronasal axons aberrantly entered into the main olfactory bulb. These results suggest that the dystrophin isoforms play various important roles in a variety of tissues in the mouse.