A novel hypomorphic Looptail allele at the planar cell polarity Vangl2 gene
Copyright policy )A novel hypomorphic Looptail allele at the planar cell polarity Vangl2 gene
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 Lp(m1Jus) , 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, Lp(m2Jus) , 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 Lp(m2Jus) embryos showed spina bifida in 12%. Lp(m2Jus) genetically interacts with Lp with 77% of compound heterozygotes displaying craniorachischisis. Vangl2(R259L) behaved like the wild-type allele in overexpression and morpholino knockdown/rescue assays in zebrafish embryos. These data suggest that Lp(m2Jus) represents a new hypomorphic allele of Lp.
- Baylor College of Medicine United States
- University of Montreal Canada
- McGill University Canada
Male, Embryo, Nonmammalian, Sequence Homology, Amino Acid, Molecular Sequence Data, Cell Polarity, Membrane Proteins, Nerve Tissue Proteins, Validation Studies as Topic, Embryo, Mammalian, Models, Biological, Mice, Mutant Strains, Animals, Genetically Modified, Mice, Inbred C57BL, Mice, Phenotype, Animals, Female, Amino Acid Sequence, Alleles, Body Patterning
Male, Embryo, Nonmammalian, Sequence Homology, Amino Acid, Molecular Sequence Data, Cell Polarity, Membrane Proteins, Nerve Tissue Proteins, Validation Studies as Topic, Embryo, Mammalian, Models, Biological, Mice, Mutant Strains, Animals, Genetically Modified, Mice, Inbred C57BL, Mice, Phenotype, Animals, Female, Amino Acid Sequence, Alleles, Body Patterning
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