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

First Author  Blanc I Year  2003
Journal  Mamm Genome Volume  14
Issue  12 Pages  797-804
PubMed ID  14724733 Mgi Jnum  J:86815
Mgi Id  MGI:2682129 Doi  10.1007/s00335-003-2284-x
Citation  Blanc I, et al. (2003) A new mouse limb mutation identifies a Twist allele that requires interacting loci on Chromosome 4 for its phenotypic expression. Mamm Genome 14(12):797-804
abstractText  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 F(2) 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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