| First Author | Balling R | Year | 1988 |
| Journal | Cell | Volume | 55 |
| Issue | 3 | Pages | 531-5 |
| PubMed ID | 3180219 | Mgi Jnum | J:9424 |
| Mgi Id | MGI:57885 | Doi | 10.1016/0092-8674(88)90039-6 |
| Citation | Balling R, et al. (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):531-5 |
| abstractText | 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. |
