Analysis of mouse embryonic patterning and morphogenesis by forward genetics Journal Article


Authors: Garcia-Garcia, M. J.; Eggenschwiler, J. T.; Caspary, T.; Alcorn, H. L.; Wyler, M. R.; Huangfu, D.; Rakeman, A. S.; Lee, J. D.; Feinberg, E. H.; Timmer, J. R.; Anderson, K. V.
Article Title: Analysis of mouse embryonic patterning and morphogenesis by forward genetics
Abstract: Many aspects of the genetic control of mammalian embryogenesis cannot be extrapolated from other animals. Taking a forward genetic approach, we have induced recessive mutations by treatment of mice with ethylnitrosourea and have identified 43 mutations that affect early morphogenesis and patterning, including 38 genes that have not been studied previously. The molecular lesions responsible for 14 mutations were identified, including mutations in nine genes that had not been characterized previously. Some mutations affect vertebrate-specific components of conserved signaling pathways; for example, at least five mutations affect previously uncharacterized regulators of the Sonic hedgehog (Shh) pathway. Approximately half of all of the mutations affect the initial establishment of the body plan, and several of these produce phenotypes that have not been described previously. A large fraction of the genes identified affect cell migration, cellular organization, and cell structure. The findings indicate that phenotype-based genetic screens provide a direct and unbiased method to identify essential regulators of mammalian development. © 2005 by The National Academy of Sciences of the USA.
Keywords: signal transduction; controlled study; gene mutation; mutation; nonhuman; animal cell; mouse; phenotype; mammalia; animals; mice; cell compartmentalization; embryo; analytic method; sonic hedgehog protein; embryo pattern formation; morphogenesis; animalia; vertebrata; gene mapping; species specificity; mammal; clinical pathway; mammals; mesoderm; erinaceidae; body patterning; ethylnitrosourea; neural tube; chromosome mapping; cell membrane transport; nervous system; genetic regulation; neural tube closure; hedgehog; cell ultrastructure; recessive inheritance; flagellum; intraflagellar transport mesoderm; genes, recessive
Journal Title: Proceedings of the National Academy of Sciences of the United States of America
Volume: 102
Issue: 17
ISSN: 0027-8424
Publisher: National Academy of Sciences  
Date Published: 2005-04-26
Start Page: 5913
End Page: 5919
Language: English
DOI: 10.1073/pnas.0501071102
PUBMED: 15755804
PROVIDER: scopus
PMCID: PMC1087930
DOI/URL:
Notes: --- - "Cited By (since 1996): 66" - "Export Date: 24 October 2012" - "CODEN: PNASA" - "Source: Scopus"
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