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

Reference : undulated, a mutation affecting the development of the mouse skeleton, has a point mu...


	Document type :	Scientific journals : Article
	Discipline(s) :	Life sciences : Genetics & genetic processes
	To cite this reference:	http://hdl.handle.net/10993/1255

Title :	undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1.
Language :	English
Author, co-author :	Balling, Rudi []
	Deutsch, U. [> >]
	Gruss, P. [> >]
Publication date :	1988
Journal title :	Cell
Volume :	55
Issue/season :	3
Pages :	531-5
Peer reviewed :	Yes (verified by ORBi^lu)
ISSN :	0092-8674
e-ISSN :	1097-4172
Country :	UNITED STATES
Keywords :	[en] Animals ; Base Sequence ; Blotting, Southern ; DNA/genetics ; Gene Expression Regulation ; Homozygote ; Mice ; Mice, Mutant Strains ; Molecular Sequence Data ; Mutation ; Spine/embryology
Abstract :	[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.
Permalink :	http://hdl.handle.net/10993/1255

There is no file associated with this reference.

All documents in ORBi^lu are protected by a user license.