undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1

Cell. 1988 Nov 4;55(3):531-5. doi: 10.1016/0092-8674(88)90039-6.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Blotting, Southern
  • DNA / genetics
  • Gene Expression Regulation*
  • Homozygote
  • Mice
  • Mice, Mutant Strains
  • Molecular Sequence Data
  • Mutation*
  • Spine / embryology*

Substances

  • DNA