Gene Discovery Project Overview

By mutagenizing mice and screening them for specific functional defects, scientists have been able to discover genes that are involved in the various important biological processes and to create models for important human diseases. An example of one important process is the circadian clock, and the essential Clock gene of the mouse was discovered in our department using this approach. We are now in the process of discovering genes that are important for a number of processes. My lab is focusing on three of these processes: (1) blindness, (2) asthma . In all of these projects we function as a part of the National Neurogenomics Center. The center produces almost 10,000 mutagenized mice for testing per year. Click here to see a description of how the mutagenesis is done and the rationale for using a mutagenesis approach.

(1) Mutations that cause blindness. We test for blindness by examining the inside of the eye with photography (fundus photography) and by measuring the electroretinogram (ERG). Click here to see a mutant we created and see which gene was affected.

(2) Mutations that cause asthma. This disease is of growing prevalence in the U.S. and can be tested for by applying the drug methacholine while measuring the resistance of the airways of the lung. Normal individuals respond by constricting their airways only in response to a high concentration of the drug, while hyperesponsive individuals respond to a low concentration. The hyperresponsive individuals have asthma. We have found an asthma mutant with this method, and it is described in this link.