Pax Genes and Neural Tube Defects in the Mouse

  1. Gregory Bock and
  2. Joan Marsh
  1. Martyn Goulding and
  2. Alice Paquette

Published Online: 28 SEP 2007

DOI: 10.1002/9780470514559.ch7

Ciba Foundation Symposium 181 - Neural Tube Defects

Ciba Foundation Symposium 181 - Neural Tube Defects

How to Cite

Goulding, M. and Paquette, A. (2007) Pax Genes and Neural Tube Defects in the Mouse, in Ciba Foundation Symposium 181 - Neural Tube Defects (eds G. Bock and J. Marsh), John Wiley & Sons, Ltd., Chichester, UK. doi: 10.1002/9780470514559.ch7

Author Information

  1. Molecular Neurobiology Laboratory, The Salk Institute for Biological Studies, 10010 North Torrey Pines Road, PO Box 85800, San Diego, CA 92186-5800, USA

Publication History

  1. Published Online: 28 SEP 2007

ISBN Information

Print ISBN: 9780471941729

Online ISBN: 9780470514559

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Keywords:

  • pax genes;
  • neural tube defects;
  • mutations;
  • somites;
  • neural crest

Summary

The Pax genes encode a family of transcription factors that are expressed in restricted regions of the developing embryo. Several Pax genes are expressed in the developing nervous system where they are believed to regulate the morpho-genesis of neural structures. Loss-of-function mutations in the Pax-3 gene have been identified in a number of alleles of the mouse mutant splotch. In homozygous splotch embryos closure of the neural tube is defective with embryos exhibiting spina bifida and/or exencephaly. Other structures in which Pax-3 is expressed are also affected, most notably those tissues derived from the neural crest and somites.