title: undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1.
abstract: undulated (un) homozygous mice exhibit vertebral malformations along the entire rostro-caudal axis. Pax 1, a murine paired box-containing gene, is expressed in ventral sclerotome cells and later in intervertebral disks along the entire vertebral column. We localized the Pax 1 gene on chromosome 2 between beta 2-microglobulin and the agouti locus to an area where un maps. DNA analysis of the un mutant revealed a point mutation in a highly conserved part of the paired box of Pax 1, leading to a Gly-Ser replacement. The chromosomal location and the mutation in the paired box of un mice in conjunction with Pax 1 gene expression in wild-type mice implicate a causative role of Pax 1 in generation of the vertebral column.
authors.affiliation: Department of Molecular Cell Biology, Max-Planck Institute of Biophysical Chemistry, Göttingen, Federal Republic of Germany.
authors.forename: R
authors.initials: R
authors.lastname: Balling
authors.forename: U
authors.initials: U
authors.lastname: Deutsch
authors.forename: P
authors.initials: P
authors.lastname: Gruss
mesh_terms: D000818:Animals; D001483:Base Sequence; D015139:Blotting, Southern; D004247:DNA / Q000235:genetics; D005786:Gene Expression Regulation; D006720:Homozygote; D051379:Mice; D008817:Mice, Mutant Strains; D008969:Molecular Sequence Data; D009154:Mutation; D013131:Spine / Q000196:embryology*
chemical_list: D004247:DNA