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Generation of Rare Human NMDA Receptor Variants in Mice

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NMDA Receptors

Part of the book series: Methods in Molecular Biology ((MIMB,volume 2799))

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Abstract

The analysis of rare NMDAR gene variants in mice, coupled with a fundamental understanding of NMDAR function, plays a crucial role in achieving therapeutic success when addressing NMDAR dysfunctions in human patients. For the generation of such NMDAR mouse models, a basic knowledge of receptor structure, along with skills in database sequence analysis, cloning in E. coli, genetic manipulation of embryonic stem (ES) cells, and ultimately the genetic modification of mouse embryos, is essential. Primarily, this chapter will focus on the design and synthesis of NMDAR gene-targeting vectors that can be used successfully for the genetic manipulation of mice. We will outline the core principles of the design and synthesis of a gene targeting vector that facilitates the introduction of single-point mutations in NMDAR-encoding genes in mice. The transformation of ES cells, selection of positive ES cell colonies, manipulation of mouse embryos, and genotyping strategies will be described briefly.

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Author information

Authors and Affiliations

  1. Max Planck Institute for Medical Research, Heidelberg, Germany

    Rolf Sprengel

  2. Department of Biomedical Sciences, School of Medicine, Mercer University, Columbus, GA, USA

    Ahmed Eltokhi

  3. Miltenyi Biotec B.V. & Co. KG, Bergisch Gladbach, Germany

    Frank N. Single

Authors
  1. Rolf Sprengel
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  2. Ahmed Eltokhi
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  3. Frank N. Single
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Corresponding author

Correspondence to Rolf Sprengel .

Editor information

Editors and Affiliations

  1. INSERM, Aix-Marseille University, Mediterranean Institute of Neurobiology (INMED), Marseille, France

    Nail Burnashev

  2. INSERM, Aix-Marseille University, Mediterranean Institute of Neurobiology (INMED), Marseille, France

    Pierre Szepetowski

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© 2024 The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature

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Sprengel, R., Eltokhi, A., Single, F.N. (2024). Generation of Rare Human NMDA Receptor Variants in Mice. In: Burnashev, N., Szepetowski, P. (eds) NMDA Receptors. Methods in Molecular Biology, vol 2799. Humana, New York, NY. https://doi.org/10.1007/978-1-0716-3830-9_6

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  • DOI: https://doi.org/10.1007/978-1-0716-3830-9_6

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  • Publisher Name: Humana, New York, NY

  • Print ISBN: 978-1-0716-3829-3

  • Online ISBN: 978-1-0716-3830-9

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