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Annu Rev Cell Dev Biol. 2014;30:705-22. doi: 10.1146/annurev-cellbio-100913-012920.

Haploid mouse embryonic stem cells: rapid genetic screening and germline transmission.

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Institute of Molecular Health Sciences, Swiss Federal Institute of Technology, ETH Zürich, Hönggerberg, 8049 Zürich, Switzerland; email:


Most animal genomes are diploid, and mammalian development depends on specific adaptations that have evolved secondary to diploidy. Genomic imprinting and dosage compensation restrict haploid development to early embryos. Recently, haploid mammalian development has been reinvestigated since the establishment of haploid embryonic stem cells (ESCs) from mouse embryos. Haploid cells possess one copy of each gene, facilitating the generation of loss-of-function mutations in a single step. Recessive mutations can then be assessed in forward genetic screens. Applications of haploid mammalian cell systems in screens have been illustrated in several recent publications. Haploid ESCs are characterized by a wide developmental potential and can contribute to chimeric embryos and mice. Different strategies for introducing genetic modifications from haploid ESCs into the mouse germline have been further developed. Haploid ESCs therefore introduce new possibilities in mammalian genetics and could offer an unprecedented tool for genome exploration in the future.


embryonic stem cells; genetic screening; haploid cells; transgenic mice

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