Development of the Skeletal System

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Abstract
The analysis of the development of the skeletal system has been greatlyfacilitated by the availability of a large number of mouse mutants with skeletaldefects. Whereas for many of these mutants a description of the main phenotypicabnormalities is known, molecular insight into the ontogeny of the skeletal systemis limited. One of the few skeletal mutants for which the molecular basis is knownis undulated. These mice have a defect in the differentiation of the sclerotomeand Pax‐1, a mouse paired‐box containing gene, has been identified as a candidategene for this mutation. A molecular analysis of three independent undulated allelesrevealed that in each case the Pax‐1 gene is affected. One of the alleles could beclassified as a null allele, in which the Pax‐1 gene is deleted. A phenotypic analysisshows that Pax‐1 is required for proper differentiation of intervertebral discs andvertebral bodies.