Abstract# 2083: Proximal tubule specific knockout of Bhd in mouse kidney causes multicystic kidney disease and renal cancer

Birt-Hogg-Dube\#8242;( BHD) disease is a hereditary cancer syndrome, a member of the harmatoma syndrome family, characterized by development of lesions in multiple organs, including kidney, skin, colon, parotid gland, and lung. The identification of BHD gene has provided insights into pathogenesis of the syndrome. BHD encodes a novel protein of 579 amino acids, folliculin (FLCN), which has no known function domains. Genetically engineered mouse models have become one of the most useful scientific tools in helping to understand the disease-related genes, particularly those that can only be examined in the context of an in vivo microenvironment. By combining the Gateway Technology with Cre-loxP site-specific recombination system, we developed two kidney-specific BHD knockout mouse models, a distal tubule/collecting duct-specific BHD knockout mouse model and a proximal tubule-specific BHD …