id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_ei4stnzaj5fhrc25j7xykanray	Ethan Daley	Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model	2009.0	15	.pdf	application/pdf	11772	2342	74	Osteogenesis imperfecta (OI) is a heritable form of bone fragility typically associated with a dominant COL1A1 or COL1A2 mutation. Patterning a new OI mouse model on a specific collagen mutation therefore has been hindered by the Amish (OOA) to define a wide range of OI phenotypes in 64 individuals with the identical COL1A2 mutation. (L1–4) areal bone mineral density (aBMD) Z-scores demonstrated that 73% had moderate to severe disease (less than �2), 23% had mild Bone phenotype was evaluated in four F1 lines of knock-in mice that each shared approximately 50% of their genetic background. Consistent with the human pedigree, these mice had reduced body mass, aBMD, and bone strength. indicate that the G610C OI (Amish) knock-in mouse is a novel translational model to identify modifying genes that influence phenotype The mean OI Z-score for standing height was significantly reduced (p < .0001) compared with family controls for both age groups.	./cache/work_ei4stnzaj5fhrc25j7xykanray.pdf	./txt/work_ei4stnzaj5fhrc25j7xykanray.txt