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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; 
doi:10.1074/jbc.M112.433078 
Contact: Mon-Li Chu,  
Thomas Jefferson University, 
Philadelphia, Pa. 
e-mail:  
mon-li.chu@jefferson.edu

http://www.biocentury.com/targets/collagen_type_vi_alpha_3?utm_source=nature
http://www.biocentury.com/targets/collagen_type_vi_alpha_3?utm_source=nature
http://www.biocentury.com/targets/col6a3?utm_source=nature
mailto:mon-li.chu@jefferson.edu
mailto:mon-li.chu@jefferson.edu

	Mouse model for collagen type VI α3 (COL6A3)-related muscular dystrophies
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