title: An ENU-mutagenesis screen in the mouse: identification of novel developmental gene functions.
abstract: 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.
  
  
  RESULTS
  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
  Using a forward genetics approach, we have generated a number of novel mutant alleles that are linked to disturbed morphogenesis during development.
authors.affiliation: Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences and University Medical Centre Utrecht, Utrecht, The Netherlands.
authors.forename: Carolien
authors.initials: C
authors.lastname: Wansleeben
authors.forename: Léon
authors.initials: L
authors.lastname: van Gurp
authors.forename: Harma
authors.initials: H
authors.lastname: Feitsma
authors.forename: Carla
authors.initials: C
authors.lastname: Kroon
authors.forename: Ester
authors.initials: E
authors.lastname: Rieter
authors.forename: Marlies
authors.initials: M
authors.lastname: Verberne
authors.forename: Victor
authors.initials: V
authors.lastname: Guryev
authors.forename: Edwin
authors.initials: E
authors.lastname: Cuppen
authors.forename: Frits
authors.initials: F
authors.lastname: Meijlink
mesh_terms: D000483:Alleles; D000818:Animals; D047108:Embryonic Development / Q000235:genetics; D005038:Ethylnitrosourea / Q000633:toxicity*; D050437:Genes, Developmental; D005821:Genetic Techniques; D008168:Lung / Q000187:drug effects; D051379:Mice; D008957:Models, Genetic; D009152:Mutagenicity Tests / Q000379:methods*; D009153:Mutagens; D009154:Mutation; D010641:Phenotype; D013997:Time Factors
chemical_list: D009153:Mutagens; D005038:Ethylnitrosourea