Mutations of the mouse Twist and sy (fibrillin 2) genes induced by chemical mutagenesis of ES cells.
Document Type
Article
Publication Date
2001
Keywords
Amino-Acid-Sequence, Animal, Base-Sequence, DNA-Mutational-Analysis, Ethyl-Methanesulfonate, Exons, Genes-Lethal, Genetic-Complementation-Test, Genotype, Long-Interspersed-Nucleotide-Elements, Mice, Microfilament-Proteins, Molecular-Sequence-Data, Mutagenesis, Mutation, Nuclear-Proteins, Phenotype, Physical-Chromosome-Mapping, Polydactyly, Sequence-Alignment, Sequence-Deletion, Stem-Cells, SUPPORT-NON-U-S-GOVT, SUPPORT-U-S-GOVT-P-H-S, Syndactyly
First Page
291
Last Page
298
Grant
CA34196/CA/NCI, GM45415/GM/NIGMS, HD08441/HD/NICHD
Abstract
A prior phenotype-based screen of mice derived from ethylmethanesulfonate-mutagenized embryonic stem cells yielded two mouse limb defect mutants. Animals heterozygous for the polydactyly ems (Pde) mutation display preaxial polydactyly of the hindlimbs, and homozygous syndactyly ems (sne) animals are characterized by a fusion of the middle digits of their hindlimbs and sometimes forelimbs. We now report that Pde is a new allele of the basic helix-loop-helix protein gene Twist. Sequencing the full-length cDNA and several hundred basepairs of genomic DNA upstream of the coding region failed to reveal a mutation, suggesting that the lesion may be in a regulatory element of the gene. sne is a new fused phalanges (fp) allele of the shaker-with-syndactylism deletion complex (sy), and we show that the genomic lesion is a small deletion removing an entire exon, coincident with the insertion of the 3' end of a LINE element belonging to the TF subfamily. Copyright 2001
Recommended Citation
Browning VL,
Chaudhry SS,
Planchart A,
Dixon MJ,
Schimenti JC.
Mutations of the mouse Twist and sy (fibrillin 2) genes induced by chemical mutagenesis of ES cells. . 2001; ():291