title: Spectrum of Bmp5 mutations from germline mutagenesis experiments in mice.
abstract: Over 40 years of mutagenesis experiments using the mouse specific-locus test have produced a large number of induced germline mutations at seven loci, among them the short ear locus. We have previously shown that the short ear locus encodes bone morphogenetic protein 5 (BMP5), a member of a large family of secreted signaling molecules that play key roles in axis formation, tissue differentiation, mesenchymalepithelial interactions, and skeletal development. Here we examine 24 chemical- and radiation-induced mutations at the short ear locus. Sequence changes in the Bmp5 open reading frame confirm the importance of cysteine residues in the function of TGF beta superfamily members. The spectrum of N-ethyl-N-nitrosourea-induced mutations also provides new information about the basepair, sequence context, and strand specificity of germline mutations in mammals.
authors.affiliation: Department of Developmental Biology, Backmen Center B300, Stanford University School of Medicine, Palo Alto, California 94304-5427, USA.
authors.forename: P C
authors.initials: PC
authors.lastname: Marker
authors.forename: K
authors.initials: K
authors.lastname: Seung
authors.forename: A E
authors.initials: AE
authors.lastname: Bland
authors.forename: L B
authors.initials: LB
authors.lastname: Russell
authors.forename: D M
authors.initials: DM
authors.lastname: Kingsley
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D019485:Bone Morphogenetic Proteins / Q000235:genetics*; D018076:DNA, Complementary; D005260:Female; D018095:Germ-Line Mutation; D008297:Male; D051379:Mice; D008809:Mice, Inbred C3H; D008969:Molecular Sequence Data; D016296:Mutagenesis; D016133:Polymerase Chain Reaction
chemical_list: D019485:Bone Morphogenetic Proteins; D018076:DNA, Complementary