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Article

A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene.

Nature genetics - 1 Mar 1993

Hui C C, Joyner A L

Abstract excerpt

Greig cephalopolysyndactyly syndrome (GCPS) is an autosomal dominant disorder affecting limb and craniofacial development. Recently, the human GLI3 gene has been proposed to be a candidate gene for GCPS. Here we describe the molecular characterization of extra-toes (Xt), which is a mouse model of GCPS. The Xt heterozygotes show craniofacial defects and a polydactyly phenotype similar to GCPS. We show that a...

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Identifiers

PMID: 8387379
DOI: 10.1038/ng0393-241

Genes

GLI3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene.PMID 8387379Read ↗

Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt).Semantic proximity Read ↗

Expression of the zinc finger gene Gli3 is affected in the morphogenetic mouse mutant extra-toes (Xt).Semantic proximity Read ↗

Birth defects caused by mutations in human GLI3 and mouse Gli3 genes.Semantic proximity Read ↗

Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome.Semantic proximity Read ↗

Gli3 expression is affected in the morphogenetic mouse mutants add and Xt.Semantic proximity Read ↗

The pleiotropic mouse phenotype extra-toes spotting is caused by translation initiation factor Eif3c mutations and is associated with disrupted sonic hedgehog signaling.Semantic proximity Read ↗

A novel frameshift mutation GLI3c.1826delG in a Greig-cephalopolysyndactyly syndrome patient with nontypical preaxial polydactyly: A case reportSemantic proximity Read ↗

The clinical atlas of Greig cephalopolysyndactyly syndromeSemantic proximity Read ↗

Wnt/β-catenin signaling is disrupted in the extra-toes (Gli3(Xt/Xt) ) mutant from early stages of forebrain development, concomitant with anterior neural plate patterning defects.Semantic proximity Read ↗

Further characterization of the genetic defect of the Bent tail mouse, a mouse model for human neural tube defects.Semantic proximity Read ↗

Pallister-Hall syndrome phenotype in mice mutant for Gli3.Semantic proximity Read ↗

High-resolution mapping of the Gli3 mutation extra-toes reveals a 51.5-kb deletion.Semantic proximity Read ↗

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