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Disease models

Mouse model of dominant Ullrich congenital muscular dystrophy (UCMD)

A mouse model of dominant UCMD with deletion of collagen type VI a3 (Col6a3) exon 16 could help identify treatments for the disease. In mice, heterozygous deletion of exon 16 of Col6a3 resulted in production of both normal and mutant Col6a3 mRNA, which prevented assembly of collagen microfibrils and mimicked the human condition. The mutant mice had myopathy, ultrastructural changes in muscle mitochondria and sarcoplasmic reticulum, abnormal collagen fibers in tendons and impaired muscle function and contractions. Next steps could include using the model to identify therapeutics.

SciBX 7(13); doi:10.1038/scibx.2014.382
Published online April 3, 2014

Unpatented; available for licensing

Pan, T.-C. et al. J. Biol. Chem.; published online Feb. 22, 2014;
Contact: Mon-Li Chu, Thomas Jefferson University, Philadelphia, Pa.