Publications Search

Search for publications by author
Search for publications by abstract keyword(s)

Rapid phenotyping of knockout mice to identify genetic determinants of bone strength.


The genetic determinants of osteoporosis remain poorly understood and there is a large unmet need for new treatments in our aging society. Thus, new approaches for gene discovery in skeletal disease are required to complement the current genome wide association studies in human populations. The International Knockout Mouse Consortium (IKMC) and International Mouse Phenotyping Consortium (IMPC) provide such an opportunity. The IKMC is generating knockout mice representing each of the known protein-coding genes in C57BL/6 mice and, as part of the IMPC initiative, the Origins of Bone and Cartilage Disease project is identifying mutants with significant outlier skeletal phenotypes. This initiative will add value to data from large human cohorts and provide a new understanding of bone and cartilage pathophysiology, ultimately leading to the identification of novel drug targets for the treatment of skeletal disease.

Type Journal
Authors Freudenthal, B.; Logan, J.; Sanger Institute Mouse Pipelines; Croucher, P.I.; Williams, G.R.; Bassett, J.H.D.
Published Date 2016-10-01
Published Volume 231
Published Issue 1
Published Pages R31-46
Status Published in-print
URL link to publisher's version
OpenAccess link to author's accepted manuscript version