rdf:type |
|
lifeskim:mentions |
|
pubmed:issue |
5
|
pubmed:dateCreated |
1996-9-5
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pubmed: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.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-1289066,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-1307234,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-1347148,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-1347149,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-1423627,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-1516135,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-1650914,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-1682057,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-1707878,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-2006186,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-2205465,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-2263736,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-2726763,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-3195584,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-3353376,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-3440881,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-3714003,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-42071,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-6876874,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-7180852,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-7720702,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-7849805,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-7859286,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-7862670,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-8005023,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-8054974,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-8387379,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-8406449,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-8420923,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-8460149,
http://linkedlifedata.com/resource/pubmed/commentcorrection/8700893-95356
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pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
IM
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pubmed:chemical |
|
pubmed:status |
MEDLINE
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pubmed:month |
Mar
|
pubmed:issn |
0027-8424
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pubmed:author |
|
pubmed:issnType |
Print
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pubmed:day |
5
|
pubmed:volume |
93
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pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
2110-5
|
pubmed:dateRevised |
2010-9-13
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pubmed:meshHeading |
pubmed-meshheading:8700893-Animals,
pubmed-meshheading:8700893-Disease Models, Animal,
pubmed-meshheading:8700893-Gene Expression Regulation, Developmental,
pubmed-meshheading:8700893-Genes,
pubmed-meshheading:8700893-Genes, Lethal,
pubmed-meshheading:8700893-Heterozygote,
pubmed-meshheading:8700893-Homozygote,
pubmed-meshheading:8700893-In Situ Hybridization,
pubmed-meshheading:8700893-Intracellular Signaling Peptides and Proteins,
pubmed-meshheading:8700893-Membrane Proteins,
pubmed-meshheading:8700893-Mice,
pubmed-meshheading:8700893-Mice, Inbred C57BL,
pubmed-meshheading:8700893-Mice, Knockout,
pubmed-meshheading:8700893-Neural Tube Defects,
pubmed-meshheading:8700893-Proteins,
pubmed-meshheading:8700893-RNA, Messenger,
pubmed-meshheading:8700893-Retina,
pubmed-meshheading:8700893-Spinal Dysraphism,
pubmed-meshheading:8700893-Tail
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pubmed:year |
1996
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pubmed:articleTitle |
Neural tube defects and abnormal brain development in F52-deficient mice.
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pubmed: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.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|