This cooperative program, supported by the Reproductive Sciences Branch, began in the fall of 2002 to phenotype and map mutations affecting development and fertility in mutant mice created in an earlier trans-NIH project. Additionally, the group will develop novel methods for creating mouse mutants and for high-throughput mapping of the affected loci. The program includes Dr. Colin Bishop, Baylor College of Medicine; Dr. J. Larry Jameson, Northwestern University; Dr. David Beier, Harvard University and Dr. Kathryn Anderson, Sloan-Kettering Institute, with the informal cooperation of Dr. Monica Justice of Baylor College of Medicine (funded through U01 HD039372) and Dr. John Eppig of The Jackson Laboratory (P01 HD42137) The group coordinates its activities with the NIH Mouse Genomics and Genetics Scientific Panel.

Drs. Bishop and Jameson focus on fertility mutants. Dr. Bishop optimized the "sleeping beauty" transposon to rapidly create transgenic mutants and provide for speedier cloning of the affected gene, and are now characterizing several mutant phenotypes. Dr. Bishop’s transgenic mutagenesis program, also supported in his U01 grant, has generated 6 confirmed and 4 probable reproductive mutants. Dr. Jameson's group initially focused on screening mutant mice for sex-reversal but limited success prompted a switch to screening for dominant testicular phenotypes. To date, 36 testicular mutant lines have been identified and three are confirmed. One of the mutants displays a urogenital phenotype reminiscent of the human syndrome Congenital Anomalies of the Kidney and Urinary Tract (CAKUT). All described mutants are freely available to the research community through the projects' websites and many will be archived as frozen sperm through the Mutant Mouse Regional Resource Centers.

For more information, please contact Dr. Tracy Rankin.