Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt)


The dominant mouse mutant extra toes (Xt) is characterized by preaxial and postaxial polydactyly of the feet and a white belly spot. An interfrontal bone is present in the skull in 90% of heterozygotes compared with 50% of normal mice. Homozygous Xt/Xt embryos exhibit multiple skeletal defects, extreme polydactyly in both foreand hindlimbs, and malformations of the brain and the eye (Johnson 1967; Franz and Besecke 1991). Depending on the genetic background, Xt homozygotes die prenatally or perinatally (Johnson 1967). An allelic but recessive syndrome is the anterior digit pattern deformity mutation (add), which is the result of a transgene integration (Pohl et al. 1990). In this case the malformations of the mutants are restricted to the forelimbs. Using DNA probes spanning the add transgene integration site, Pohl and coworkers (1990) could show that at least 80 kbp of surrounding DNA are deleted in Xt mice. On the basis of the similarity of the phenotype, Xt is considered the mouse homolog of the human autosomal dominant Greig cephalopolysyndactyly syndrome, GCPS (Winter and Huson 1988). The latter is characterized by polysyndactyly of hands and feet and mild craniofacial abnormalities (Gollop and Fontes 1985). The gene locus has been pinpointed to human Chromosome (Chr) 7p13 by different translocations and deletions associated with the disorder (Tommerup and Nielsen 1983; Krt~ger et al. 1989; Wagner et al. 1990; Pettigrew et al. 1991; Vortkamp et al. 1991b). Using six hybrids from three GCPS translocation patients, we recently have demonstrated that the zinc finger gene GLI3 (Ruppert et al. 1988, 1990) is dis-

DOI: 10.1007/BF00356157

1 Figure or Table

Citations per Year

1,245 Citations

Semantic Scholar estimates that this publication has 1,245 citations based on the available data.

See our FAQ for additional information.

Cite this paper

@article{Vortkamp1992DeletionOG, title={Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt)}, author={Andrea Vortkamp and Thomas Franz and Manfred Gessler and Karl Heinz Grzeschik}, journal={Mammalian Genome}, year={1992}, volume={3}, pages={461-463} }