| First Author | Wu M | Year | 1996 |
| Journal | Proc Natl Acad Sci U S A | Volume | 93 |
| Issue | 5 | Pages | 2110-5 |
| PubMed ID | 8700893 | Mgi Jnum | J:32127 |
| Mgi Id | MGI:79632 | Doi | 10.1073/pnas.93.5.2110 |
| Citation | Wu M, et al. (1996) Neural tube defects and abnormal brain development in F52-deficient mice. Proc Natl Acad Sci U S A 93(5):2110-5 |
| abstractText | 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. |
