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

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Balling,  R.
Department of Molecular Cell Biology, MPI for biophysical chemistry, Max Planck Society;

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Deutsch,  U.
Department of Molecular Cell Biology, MPI for biophysical chemistry, Max Planck Society;

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Gruss,  P.
Department of Molecular Cell Biology, MPI for biophysical chemistry, Max Planck Society;

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Citation

Balling, R., Deutsch, U., & Gruss, P. (1988). undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1. Cell, 55(3), 531-535. doi:10.1016/0092-8674(88)90039-6.


Cite as: https://hdl.handle.net/11858/00-001M-0000-002D-2F40-C
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 β2-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.