Neural tube defects and abnormal brain development in F52-deficient mice.

作者：Min Wu, D F Chen, Toshikuni Sasaoka, Susumu Tonegawa · 发表于：Proceedings of the National Academy of Sciences · 年份：1996 · DOI：10.1073/pnas.93.5.2110 · 被引用次数：93 · 研究领域：Folate and B Vitamins Research、Renal and related cancers、Prenatal Screening and Diagnostics

F52 is a myristoylated, alanine-rich substrate for protein kinase C. We have generated F52-deficient mice by the gene targeting technique. These mutant mice manifest severe neural tube defects that are not associated with other complex malformations, a phenotype reminiscent of common human neural tube defects. The neural tube defects observed include both exencephaly and spina bifida, and the phenotype exhibits partial penetrance with about 60% of homozygous embryos developing neural tube defects. Exencephaly is the prominent type of defect and leads to high prenatal lethality. Neural tube defects are observed in a smaller percentage of heterozygous embryos (about 10%). Abnormal brain development and tail formation occur in homozygous mutants and are likely to be secondary to the neural tube defects. Disruption of F52 in mice therefore identifies a gene whose mutation results in isolated neural tube defects and may provide an animal model for common human neural tube defects.