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Article

A new mouse limb mutation identifies a Twist allele that requires interacting loci on chromosome 4 for its phenotypic expression.

Mammalian genome : official journal of the International Mammalian Genome Society - 1 Dec 2003

Blanc Isabelle, Bach Antoine, Lallemand Yvan, Perrin-Schmitt Fabienne, Guénet Jean-Louis, Robert Benoît

Abstract excerpt

Pluridigite ( Pdt) is a semi-dominant mutation obtained after a mutagenesis experiment with ethyl-nitroso-urea (ENU). The mutant exhibits abnormal skeletal pattern formation characterized by the formation of extra digits (polydactyly) in the preaxial (anterior) part of the hindlimbs. The phenotype shows incomplete penetrance, depending on the genetic background. In an F2 cross with C57BL/6, the phenotype could...

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Identifiers

PMID: 14724733
DOI: 10.1007/s00335-003-2284-x

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

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A new mouse limb mutation identifies a Twist allele that requires interacting loci on chromosome 4 for its phenotypic expression.PMID 14724733Read ↗

Mutations of the mouse Twist and sy (fibrillin 2) genes induced by chemical mutagenesis of ES cells.Semantic proximity Read ↗

Twist functions in mouse development.Semantic proximity Read ↗

Timed deletion of Twist1 in the limb bud reveals age-specific impacts on autopod and zeugopod patterning.Semantic proximity Read ↗

Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.Semantic proximity Read ↗

An ENU-induced mutation in Twist1 transactivation domain causes hindlimb polydactyly with complete penetrance and dominant-negatively impairs E2A-dependent transcription.Semantic proximity Read ↗

Regionalized Twist1 activity in the forelimb bud drives the morphogenesis of the proximal and preaxial skeleton.Semantic proximity Read ↗

The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome.Semantic proximity Read ↗

Mutations of the TWIST gene in the Saethre-Chotzen syndrome.Semantic proximity Read ↗

Generation of a Twist1 conditional null allele in the mouse.Semantic proximity Read ↗

Nt mutation causing laterality defects associated with deletion of rotatin.Semantic proximity Read ↗

Twist plays an essential role in FGF and SHH signal transduction during mouse limb development.Semantic proximity Read ↗

Twist function is required for the morphogenesis of the cephalic neural tube and the differentiation of the cranial neural crest cells in the mouse embryo.Semantic proximity Read ↗

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