A homozygous mutant embryonic stem cell bank applicable for phenotype-driven genetic screening

Nat Methods. 2011 Oct 23;8(12):1071-7. doi: 10.1038/nmeth.1739.

Abstract

Genome-wide mutagenesis in mouse embryonic stem cells (ESCs) is a powerful tool, but the diploid nature of the mammalian genome hampers its application for recessive genetic screening. We have previously reported a method to induce homozygous mutant ESCs from heterozygous mutants by tetracycline-dependent transient disruption of the Bloom's syndrome gene. However, we could not purify homozygous mutants from a large population of heterozygous mutant cells, limiting the applications. Here we developed a strategy for rapid enrichment of homozygous mutant mouse ESCs and demonstrated its feasibility for cell-based phenotypic analysis. The method uses G418-plus-puromycin double selection to enrich for homozygotes and single-nucleotide polymorphism analysis for identification of homozygosity. We combined this simple approach with gene-trap mutagenesis to construct a homozygous mutant ESC bank with 138 mutant lines and demonstrate its use in phenotype-driven genetic screening.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Biological Specimen Banks*
  • Embryonic Stem Cells / cytology
  • Embryonic Stem Cells / metabolism*
  • Genomics
  • Gentamicins / pharmacology
  • Homozygote*
  • Mice
  • Mutation / genetics*
  • Phenotype
  • Polymorphism, Single Nucleotide / genetics
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics
  • Proteins / genetics
  • Puromycin / pharmacology
  • RNA-Binding Proteins
  • Tissue Banks*

Substances

  • Dgcr8 protein, mouse
  • Gentamicins
  • Proteins
  • RNA-Binding Proteins
  • Puromycin
  • antibiotic G 418
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11
  • Ptpn11 protein, mouse