title: Neural tube defects and abnormal brain development in F52-deficient mice.
abstract: 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.
authors.affiliation: Howard Hughes Medical Institute, Center for Learning and Memory, Center for Cancer Research and Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.
authors.forename: M
authors.initials: M
authors.lastname: Wu
authors.forename: D F
authors.initials: DF
authors.lastname: Chen
authors.forename: T
authors.initials: T
authors.lastname: Sasaoka
authors.forename: S
authors.initials: S
authors.lastname: Tonegawa
mesh_terms: D000818:Animals; D002148:Calmodulin-Binding Proteins; D004195:Disease Models, Animal; D018507:Gene Expression Regulation, Developmental; D005796:Genes; D005804:Genes, Lethal; D006579:Heterozygote; D006720:Homozygote; D017403:In Situ Hybridization; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D051379:Mice; D008810:Mice, Inbred C57BL; D018345:Mice, Knockout; D008840:Microfilament Proteins; D009436:Neural Tube Defects / Q000196:embryology / Q000235:genetics*; D011506:Proteins / Q000502:physiology*; D012333:RNA, Messenger / Q000235:genetics; D012160:Retina / Q000002:abnormalities; D016135:Spinal Dysraphism / Q000196:embryology / Q000235:genetics; D013623:Tail / Q000002:abnormalities
chemical_list: D002148:Calmodulin-Binding Proteins; D047908:Intracellular Signaling Peptides and Proteins; C512945:Marcksl1 protein, mouse; D008565:Membrane Proteins; D008840:Microfilament Proteins; D011506:Proteins; D012333:RNA, Messenger