ArticleMammalian genome : official journal of the International Mammalian Genome Society2018
Identification and characterization of a novel chemically induced allele at the planar cell polarity gene Vangl2.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 4 citations in OpenAlex.
- Cryo-EM structure and oligomerization of the human planar cell polarity core protein Vangl1.Nature communications · 2025Article
- Core planar cell polarity genesProceedings of the National Academy of Sciences of the United States of America · 2024Article
- Mutations associated with human neural tube defects display disrupted planar cell polarity ineLife · 2020Article
- The bidirectional relationship between cilia and PCP signaling pathway core protein Vangl2.Science progressReview
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Authors and funding
7 authors at 3 institutions in 1 country.
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Abstract
Planar cell polarity (PCP) signaling controls a number of morphogenetic processes including convergent extension during gastrulation and neural tube formation. Defects in this pathway cause neural tube defects (NTD), the most common malformations of the central nervous system. The Looptail (Lp) mutant mouse was the first mammalian mutant implicating a PCP gene (Vangl2) in the pathogenesis of NTD. We report on a novel chemically induced mutant allele at Vangl2 called Curly Bob that causes a missense mutation p.Ile268Asn (I268N) in the Vangl2 protein. This mutant segregates in a semi-dominant fashion with heterozygote mice displaying a looped tail appearance, bobbing head, and a circling behavior. Homozygote mutant embryos suffer from a severe form of NTD called craniorachischisis, severe PCP defects in the inner hair cells of the cochlea and posterior cristae, and display a distinct defect in retinal axon guidance. This mutant genetically interacts with the Lp allele (Vangl2
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Registered trials
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