Bone Abstracts

ADO2 is a debilitating genetic bone disease causing multiple fractures and other severe symptoms. A mouse model of ADO2, harbouring the heterozygous Clcn7G213R gene mutation, phenocopies the human syndrome. The Clc7 gene encodes the ClC7 dimeric 2Cl−/1H+ antiporter that is almost ubiquitously expressed, although the mutations hit especially the osteoclasts impairing bone resorption. By immunofluorescence, we observed that the mutant ClC7 ...