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¹ Department of Biomedical Sciences, College of Veterinary Medicine, Cornell University, T9014A, Ithaca, NY 14853, USA

The study of reproductive genetics in mammals has lagged behind that of simpler and more tractable model organisms, such as D. melanogaster, C. elegans and various yeast models. Although much valuable information has been generated using these organisms, they do not model the genetic and biological complexity of mammalian reproduction. Thus, the majority of genes required for gametogenesis in mammals remain unidentified. To expand on the existing knowledge of mammalian reproductive genetics, we have carried out forward genetic screens in mice to identify infertility mutants and the underlying mutant genes. Two different approaches were used: mutagenesis of the germline in whole mice, and mutagenesis of embryonic stem cells. This was followed by two- or three-generation breeding schemes to identify pedigrees segregating infertility mutations, which were then phenotypically characterized, genetically mapped, and in some cases, positionally cloned. This whole-genome approach has generated a wide collection of mutants with defects ranging from problems with germ cell development to abnormal sperm morphology. These models have allowed us to study the genetics, as well as the physiology, of reproduction in mammals. This review focuses on describing some of the genes identified in these screens and the ongoing effort to characterize additional mutants.

(Received 14 August 2006; accepted after revision 7 September 2006; first published online 14 September 2006)
Corresponding author J. Schimenti: Department of Biomedical Sciences, College of Veterinary Medicine, Cornell University, T9014A, Ithaca, NY 14853, USA. Email: jcs92{at}cornell.edu

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