Development of the skeletal system

The analysis of the development of the skeletal system has been greatly facilitated by the availability of a large number of mouse mutants with skeletal defects. Whereas for many of these mutants a description of the main phenotypic abnormalities is known, molecular insight into the ontogeny of the skeletal system is limited. One of the few skeletal mutants for which the molecular basis is known is undulated. These mice have a defect in the differentiation of the sclerotome and Pax-1, a mouse paired-box containing gene, has been identified as a candidate gene for this mutation. A molecular analysis of three independent undulated alleles revealed that in each case the Pax-1 gene is affected. One of the alleles could be classified as a null allele, in which the Pax-1 gene is deleted. A phenotypic analysis shows that Pax-1 is required for proper differentiation of intervertebral discs and vertebral bodies.