Generation and characterization of transgenic mice expressing mutated WWP1 gene responsible for chicken muscular dystrophy

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The WWP1 gene was identified as a promising candidate responsible for chicken muscular dystrophy, which encodes a E3 ubiquitin protein ligase. Dystrophy chicken has a missense mutation in the gene causes one amino acid change in the molecule. To gain insight into molecular mechanism of the muscular dystrophy, we generated transgenic(Tg) mice expressing the same mutated WWP1 as found in dystrophy chicken. Tg mice showed a small number of necrotic and regenerating fibers in the hind limb muscle. Moreover, vacuoles were often found in aged Tg mice. Whereas, aberrant glycosylation ofα-dystroglycan was not shown in Tg muscle despite of a report with dystrophy chicken.