Reference : undulated, a mutation affecting the development of the mouse skeleton, has a point mu...
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/10993/1255
undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1.
English
Balling, Rudi mailto []
Deutsch, U. [> >]
Gruss, P. [> >]
1988
Cell
55
3
531-5
Yes (verified by ORBilu)
0092-8674
1097-4172
UNITED STATES
[en] Animals ; Base Sequence ; Blotting, Southern ; DNA/genetics ; Gene Expression Regulation ; Homozygote ; Mice ; Mice, Mutant Strains ; Molecular Sequence Data ; Mutation ; Spine/embryology
[en] 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.
http://hdl.handle.net/10993/1255

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