Mutations of the mouse Twist and sy (fibrillin 2) genes induced by chemical mutagenesis of ES cells

Victoria L. Browning, Shazia S. Chaudhry, Antonio Planchart, Michael J. Dixon, John C. Schimenti

    Research output: Contribution to journalArticlepeer-review


    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 up-stream 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. © 2001 Academic Press.
    Original languageEnglish
    Pages (from-to)291-298
    Number of pages7
    Issue number3
    Publication statusPublished - 1 May 2001


    Dive into the research topics of 'Mutations of the mouse Twist and sy (fibrillin 2) genes induced by chemical mutagenesis of ES cells'. Together they form a unique fingerprint.

    Cite this