CRISPR/Cas9 mediated genome editing in ES cells and its application for chimeric analysis in mice

Sci Rep. 2016 Aug 17:6:31666. doi: 10.1038/srep31666.

Abstract

Targeted gene disrupted mice can be efficiently generated by expressing a single guide RNA (sgRNA)/CAS9 complex in the zygote. However, the limited success of complicated genome editing, such as large deletions, point mutations, and knockins, remains to be improved. Further, the mosaicism in founder generations complicates the genotypic and phenotypic analyses in these animals. Here we show that large deletions with two sgRNAs as well as dsDNA-mediated point mutations are efficient in mouse embryonic stem cells (ESCs). The dsDNA-mediated gene knockins are also feasible in ESCs. Finally, we generated chimeric mice with biallelic mutant ESCs for a lethal gene, Dnajb13, and analyzed their phenotypes. Not only was the lethal phenotype of hydrocephalus suppressed, but we also found that Dnajb13 is required for sperm cilia formation. The combination of biallelic genome editing in ESCs and subsequent chimeric analysis provides a useful tool for rapid gene function analysis in the whole organism.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Apoptosis Regulatory Proteins
  • CRISPR-Cas Systems*
  • Chimera / genetics*
  • Embryonic Stem Cells / metabolism*
  • Female
  • Gene Deletion
  • Gene Editing / methods*
  • Gene Knock-In Techniques
  • Genes, Lethal
  • HSP40 Heat-Shock Proteins / genetics
  • Hydrocephalus / genetics
  • Hydrocephalus / pathology
  • INDEL Mutation
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Inbred DBA
  • Mice, Inbred ICR
  • Mice, Transgenic
  • Molecular Chaperones
  • Point Mutation
  • Pregnancy
  • RNA, Guide, CRISPR-Cas Systems / genetics
  • Sperm Motility / genetics
  • Spermatozoa / abnormalities

Substances

  • Apoptosis Regulatory Proteins
  • DNAJB13 protein, mouse
  • HSP40 Heat-Shock Proteins
  • Molecular Chaperones
  • RNA, Guide, CRISPR-Cas Systems