Pax genes and neural tube defects in the mouse

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 morphogenesis 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.