Project Summary
P3 will exploit the complementary nature of the developing zebrafish and Xenopus to deepen our understanding of nephronophthisis (NPH), a group of ciliopathies arising from mutations in the NPH genes. A third in vivo vertebrate model, kidney-specific Tra2b-KO mice, will be added to dissect the intricate genetic and molecular mechanisms underlying defective or mis-spliced NPH gene products causative of ciliopathies. Based on these models, the project will focus on a differentiation of disease-causing mutations from those that can be compensated for genetically or by alternative splicing, and characterize effects on NPHP-module composition and cilia function.
