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Human Reproduction Update Advance Access originally published online on March 24, 2006
Human Reproduction Update 2006 12(4):449-461; doi:10.1093/humupd/dml013
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© The Author 2006. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Knockout mouse models of sperm flagellum anomalies

Denise Escalier

Andrology Department, University Paris XI, CHU Kremlin Bicêtre, France

To whom correspondence should be addressed at: Laboratoire d’Histologie Moléculaire et Fonctionnelle, 45 Rue des Saints Pères, 75270 Paris Cedex 06, France. E-mail: denise.escalier{at}univ-paris5.fr

Submitted on January 18, 2006; resubmitted on February 21, 2006; accepted on February 28, 2006

To date, 21 knockout mouse models are known to bear specific anomalies of the sperm flagellum structures leading to motility disorders. In addition, genes responsible for flagellar defects of two well-known spontaneous mutant mice have recently been identified. These models reveal genetic factors, which are required for the proper assembly of the axoneme, the annulus, the mitochondrial sheath and the fibrous sheath. Many of these genetic factors follow unexpected cellular pathways to act on sperm flagellum morphogenesis. These mouse models may bear anomalies which are restricted to the spermatozoa or display more complex phenotypes that often include neuropathies and/or cilia-related diseases. In human, several structural disorders of the sperm flagellum found in brothers or consanguineous men probably have a genetic origin, but the genes involved have not yet been identified. The mutant mice we present in this review are invaluable models, which can be used to identify potential candidate genes for infertile men with specific sperm flagellum anomalies.

Key words: axoneme / flagella / knockout mice / mutant mice / spermatogenesis / spermatozoa


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