Dysgenesis of cephalic neural crest derivatives in <i>Pax7</i>−<i>/</i>− mutant mice

TLDR

Pax7, a paired box gene, is expressed in cephalic neural crest derivatives, skeletal muscle, and CNS, and its functional redundancy with Pax3 has been noted. The authors generated Pax7–/– mice via homologous recombination in embryonic stem cells to investigate Pax7’s role during mouse embryogenesis. Homozygous Pax7–/– mice are viable at birth but die shortly after weaning, displaying facial malformations of the maxilla and nose due to a cephalic neural crest defect, while CNS and skeletal muscle appear unaffected.

Abstract

ABSTRACT Pax7 is a member of the paired box containing gene family. Its expression pattern suggests a function in cephalic neural crest derivatives, skeletal muscle and central nervous system development. To understand the role of Pax7 during mouse embryogenesis, we used the homologous recombination technique in embryonic stem cells and generated Pax7–/– mice. Homozygous animals are born but die shortly after weaning. They exhibit malformations in facial structures involving the maxilla and nose. Our analysis suggests that the observed phenotype is due to a cephalic neural crest defect. No obvious phenotype could be detected in the central nervous system and skeletal muscle. Functional redundancy between Pax7 and Pax3 is discussed.