Affiliation:
1. Institute of Biomedicine of Seville (IBiS)/Virgen del Rocío University Hospital/CSIC/University of Seville , 41013 Seville , Spain
Abstract
ABSTRACT
Neural tube defects (NTDs) are the second most common cause of congenital malformations and are often studied in animal models. Loop-tail (Lp) mice carry a mutation in the Vangl2 gene, a member of the Wnt-planar cell polarity pathway. In Vangl2+/Lp embryos, the mutation induces a failure in the completion of caudal neural tube closure, but only a small percentage of embryos develop open spina bifida. Here, we show that the majority of Vangl2+/Lp embryos developed caudal closed NTDs and presented cellular aggregates that may facilitate the sealing of these defects. The cellular aggregates expressed neural crest cell markers and, using these as a readout, we describe a systematic method to assess the severity of the neural tube dorsal fusion failure. We observed that this defect worsened in combination with other NTD mutants, Daam1 and Grhl3. Besides, we found that in Vangl2+/Lp embryos, these NTDs were resistant to maternal folic acid and inositol supplementation. Loop-tail mice provide a useful model for research on the molecular interactions involved in the development of open and closed NTDs and for the design of prevention strategies for these diseases.
Funder
Consejería de Transformación Económica, Industria, Conocimiento y Universidades
Junta de Andalucía
Consejería de Salud y Bienestar Social, Junta de Andalucía
Instituto de Salud Carlos III
Consejo Superior de Investigaciones Científicas
Ministerio de Ciencia e Innovación
Universidad de Sevilla
Publisher
The Company of Biologists
Subject
General Biochemistry, Genetics and Molecular Biology,Immunology and Microbiology (miscellaneous),Medicine (miscellaneous),Neuroscience (miscellaneous)
Cited by
2 articles.
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