A Mouse Model for Dominant Collagen VI Disorders

Abstract

Background: Dominant collagen VI gene mutations cause the severe Ullrich congenital muscular dystrophy (UCMD) and mild Bethlem myopathy. Results: A mutant mouse mimicking the most common molecular defect in dominant UCMD patients was generated and characterized. Conclusion: The mutant mouse displays muscle and connective tissue abnormalities. Significance: The mutant mouse provides an animal model for dominant collagen VI disorders. © 2014 by The American Society for Biochemistry and Molecular Biology, Inc. Published in the U.S.A.