A novel hypomorphic Looptail allele at the planar cell polarity Vangl2 gene |
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Authors: | Marie‐Claude Guyot Ciprian M. Bosoi Fares Kharfallah Annie Reynolds Pierre Drapeau Monica Justice Philippe Gros Zoha Kibar |
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Affiliation: | 1. Department of Obstetrics and Gynecology, CHU Sainte Justine Research Center and University of Montreal, Montreal, Canada;2. Department of Pathology and Cell Biology, University of Montreal, Montreal, Canada;3. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas;4. Department of Biochemistry, McGill University, Montreal, Quebec, Canada |
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Abstract: | Vangl2 forms part of the planar cell polarity signalling pathway and is the gene defective in the Looptail (Lp) mouse mutant. Two previously described alleles, Lp and Lpm1Jus, segregate in a semi‐dominant fashion, with heterozygotes displaying the looped‐tail appearance, while homozygotes show the neural tube defect called craniorachischisis. Here, we report a novel experimentally induced allele, Lpm2Jus, that carries a missense mutation, R259L, in Vangl2. This mutation was specific to the Lp phenotype and absent from both parental strains and 28 other inbred strains. Notably, this mutation segregates in a recessive manner with all heterozygotes appearing normal and 47% of homozygotes showing a looped‐tail. Homozygous Lpm2Jus embryos showed spina bifida in 12%. Lpm2Jus genetically interacts with Lp with 77% of compound heterozygotes displaying craniorachischisis. Vangl2R259L behaved like the wild‐type allele in overexpression and morpholino knockdown/rescue assays in zebrafish embryos. These data suggest that Lpm2Jus represents a new hypomorphic allele of Lp. Developmental Dynamics 240:839–849, 2011. © 2011 Wiley‐Liss, Inc. |
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Keywords: | Looptail Vangl2 planar cell polarity neural tube defects ENU mutagenesis |
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