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Updated: Aug 29, 2026

Understanding Cerebellar Pattern Formation
Published on: November 1, 2007
A new mouse limb mutation identifies a Twist allele that requires interacting loci on chromosome 4 for its phenotypic
Isabelle Blanc1, Antoine Bach, Yvan Lallemand
1Unité Postulante de Génétique Moléculaire de la Morphogenèse, URA CNRS 2578, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France.
Abstract:
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 not be associated with a single locus. Strong linkage was observed with markers located on Chromosome (Chr) 12, in a 2-cM interval between D12Mit136 and D12Mit153. This region contains the Twist gene, and we show that the [Pdt] phenotype is dependent upon a new allele of Twist. We further identified that the whole Chr 4 is associated with the [Pdt] phenotype. The Pluridigite phenotype thus results from the combination of a Twist mutant allele and at least two additional loci.
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