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Publication : A phenotype-based screen for embryonic lethal mutations in the mouse.

First Author  Kasarskis A Year  1998
Journal  Proc Natl Acad Sci U S A Volume  95
Issue  13 Pages  7485-90
PubMed ID  9636176 Mgi Jnum  J:48268
Mgi Id  MGI:1267118 Doi  10.1073/pnas.95.13.7485
Citation  Kasarskis A, et al. (1998) A phenotype-based screen for embryonic lethal mutations in the mouse. Proc Natl Acad Sci U S A 95(13):7485-90
abstractText  The genetic pathways that control development of the early mammalian embryo have remained poorly understood, in part because the systematic mutant screens that have been so successful in the identification of genes and pathways that direct embryonic development in Drosophila, Caenorhabditis elegans, and zebrafish have not been applied to mammalian embryogenesis, Here we demonstrate that chemical mutagenesis with ethylnitrosourea can be combined with the resources of mouse genomics to identify new genes that are essential for mammalian embryogenesis. A pilot screen for abnormal morphological phenotypes of midgestation embryos identified five mutant lines; the phenotypes of four of the lines are caused by recessive traits that map to single regions of the genome. Three mutant lines display defects in neural tube closure: one is caused by an allele of the open bl ain (opb) locus, one defines a previously unknown locus, and one has a complex genetic basis. Two mutations produce novel early phenotypes and map to regions of the genome not previously implicated in embryonic patterning.
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