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An ENU-mutagenesis screen in the mouse: identification of novel developmental gene functions

Wansleeben, C. and Gurp van, L.C.A. and Feitsma, H. and Kroon, C. and Rieter, E. and Verberne, M. and Guryev, V. and Cuppen, E. and Meijlink, F.C.P.W. (2011) An ENU-mutagenesis screen in the mouse: identification of novel developmental gene functions. PLoS One, 6, e19357-. ISSN 1932-6203.

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BACKGROUND: Mutagenesis screens in the mouse have been proven useful for the identification of novel gene functions and generation of interesting mutant alleles. Here we describe a phenotype-based screen for recessive mutations affecting embryonic development. METHODOLOGY/PRINCIPAL FINDINGS: Mice were mutagenized with N-ethyl-N-nitrosourea (ENU) and following incrossing the offspring, embryos were analyzed at embryonic day 10.5. Mutant phenotypes that arose in our screen include cardiac and nuchal edema, neural tube defects, situs inversus of the heart, posterior truncation and the absence of limbs and lungs. We isolated amongst others novel mutant alleles for Dll1, Ptprb, Plexin-B2, Fgf10, Wnt3a, Ncx1, Scrib(Scrib, Scribbled homolog [Drosophila]) and Sec24b. We found both nonsense alleles leading to severe protein truncations and mutants with single-amino acid substitutions that are informative at a molecular level. Novel findings include an ectopic neural tube in our Dll1 mutant and lung defects in the planar cell polarity mutants for Sec24b and Scrib. CONCLUSIONS/SIGNIFICANCE: Using a forward genetics approach, we have generated a number of novel mutant alleles that are linked to disturbed morphogenesis during development.

Item Type:Article
Institutes:Hubrecht Instituut
ID Code:12668
Deposited On:19 Sep 2012 15:39
Last Modified:14 Oct 2012 19:01

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