The cleft lip and palate defects in Dancer mutant mice result from gain of function of the Tbx10 gene.

ABSTRACT: Cleft lip and palate (CL/P) is a common disfiguring birth defect with complex, poorly understood etiology. Mice carrying a spontaneous mutation, Dancer (Dc), exhibit CL/P in homozygotes and show significantly increased susceptibility to CL/P in heterozygotes [Deol, M. S. & Lane, P. W. (1966) J. Embryol. Exp. Morphol. 16, 543-558 and Trasler, D. G., Kemp, D. & Trasler, T. A. (1984) Teratology 29, 101-104], providing an animal model for understanding the molecular pathogenesis of CL/P. We genetically mapped Dc to within a 1-cM region near the centromere of chromosome 19. In situ hybridization analysis showed that one positional candidate gene, Tbx10, is ectopically expressed in Dc mutant embryos. Positional cloning of the Dc locus revealed an insertion of a 3.3-kb sequence containing the 5'

SUBMITTER: Bush JO 

PROVIDER: S-EPMC406459 | biostudies-literature | 2004 May

REPOSITORIES: biostudies-literature