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Article

Genetic interaction between members of the Vangl family causes neural tube defects in mice.

Proceedings of the National Academy of Sciences of the United States of America - 4 Mar 2008

Torban Elena, Patenaude Anne-Marie, Leclerc Severine, Rakowiecki Staci, Gauthier Susan, Andelfinger Gregor, Epstein Douglas J, Gros Philippe

Abstract excerpt

Neural tube defects (NTDs) are very frequent congenital abnormalities in humans. Recently, we have documented independent association of Vangl1 and Vangl2 gene mutations with NTDs. In the Looptail mouse, homozygosity (but not heterozygosity) for loss-of-function alleles at Vangl2 causes the severe NTD craniorachischisis, whereas heterozygosity for mutant variants of VANGL1 is associated with NTDs in a human...

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Identifiers

PMID: 18296642
DOI: 10.1073/pnas.0712126105
PMCID: PMC2265143

Genes

VANGL1

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Genetic interaction between members of the Vangl family causes neural tube defects in mice.PMID 18296642Read ↗

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Loop-tail phenotype in heterozygous mice and neural tube defects in homozygous mice result from a nonsense mutation in the Vangl2 gene.Semantic proximity Read ↗

Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice.Semantic proximity Read ↗

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The loop-tail mouse model displays open and closed caudal neural tube defects.Semantic proximity Read ↗

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