The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans.

ABSTRACT: Oculodentodigital dysplasia (ODDD) is a dominant negatively inherited disorder with variable but characteristic anomalies of the fingers and toes, eyes, face and teeth, which are caused by mutations in the connexin 43 (Cx43) gene. All mutations analyzed so far have a negative influence on the conductance through gap junctional channels and hemichannels, as well as trafficking of Cx43 protein in transfected cells. In this study, we inserted the human Cx43G138R point mutation into the mouse Cx43 gene and generated mice conditionally expressing this mutation. All ODDD phenotypic manifestations observed in humans, including syndactyly and enamel hypoplasia as well as craniofacial, bone and heart anomalies, were also observed with significant penetrance in Cx43G138R mice. When this mutation was

SUBMITTER: Dobrowolski R 

PROVIDER: S-EPMC2847779 | biostudies-literature | 2008 Feb

REPOSITORIES: biostudies-literature