IMPC: Analysis of the novel craniocardiac malformation gene Rapgef5

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Birth defects are the major cause of infant mortality in the UK and in Europe. Of these, congenital craniofacial and cardiac malformations are amongst the most common with heart anomalies as the leading cause of infant mortality and morbidity. If we are to improve patient well being, we must identify and understand the genetic causes of birth defects as a critical first step towards improved screening, genetic counselling and personalised treatment strategies. Having identified human RAPGEF5 in patients with heart anomalies, we now need to establish a mammalian model, in order to better understand the underlying biological roles for the gene. This pump-priming project will establish an IMPC-generated mouse model Rapgef5. In addition to its role as a birth defect gene, Rapgef5 also seems to be important in the Wnt signalling pathway, which is associated with aging, and with disorders such as cancer and neurodegeneration. Therefore, establishment of this mouse model may provide us with a tool to understand human birth defects as well as important signalling processes that occur in human disease.