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Publication and contact information

Disease models

Mouse model for collagen type VI a3 (COL6A3)-related muscular dystrophies

A mouse model for COL6A3-related muscular dystrophies could help identify new treatments. In mice, a Col6a3 mutation that caused low expression of a nonfunctional collagen chain variant resulted in collagen VI microfibril deficiency, and led to decreased muscle mass and contractions compared with what was seen in wild-type mice. In the mouse model, the collagen VI pathology was specific to tendons. Next steps include identifying signaling pathways altered in the mutant mice.

SciBX 6(16); doi:10.1038/scibx.2013.396
Published online April 25, 2013

Findings unpatented; frozen sperm and breeding pairs of the mutant mice available for licensing

Pan, T.-C. et al. J. Biol. Chem.; published online April 5, 2013;
Contact: Mon-Li Chu,
Thomas Jefferson University, Philadelphia, Pa.