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Knockout mouse models as a resource for the study of rare diseases.
da Silva-Buttkus, Patricia; Spielmann, Nadine; Klein-Rodewald, Tanja; Schütt, Christine; Aguilar-Pimentel, Antonio; Amarie, Oana V; Becker, Lore; Calzada-Wack, Julia; Garrett, Lillian; Gerlini, Raffaele; Kraiger, Markus; Leuchtenberger, Stefanie; Östereicher, Manuela A; Rathkolb, Birgit; Sanz-Moreno, Adrián; Stöger, Claudia; Hölter, Sabine M; Seisenberger, Claudia; Marschall, Susan; Fuchs, Helmut; Gailus-Durner, Valerie; Hrabe de Angelis, Martin.
Afiliación
  • da Silva-Buttkus P; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstaedter Landstrasse 1, Neuherberg, Germany.
  • Spielmann N; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstaedter Landstrasse 1, Neuherberg, Germany.
  • Klein-Rodewald T; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstaedter Landstrasse 1, Neuherberg, Germany.
  • Schütt C; Institute of Experimental Genetics, Applied Computational Biology, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstaedter Landstrasse 1, Neuherberg, Germany.
  • Aguilar-Pimentel A; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstaedter Landstrasse 1, Neuherberg, Germany.
  • Amarie OV; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstaedter Landstrasse 1, Neuherberg, Germany.
  • Becker L; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstaedter Landstrasse 1, Neuherberg, Germany.
  • Calzada-Wack J; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstaedter Landstrasse 1, Neuherberg, Germany.
  • Garrett L; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstaedter Landstrasse 1, Neuherberg, Germany.
  • Gerlini R; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstaedter Landstrasse 1, Neuherberg, Germany.
  • Kraiger M; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstaedter Landstrasse 1, Neuherberg, Germany.
  • Leuchtenberger S; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstaedter Landstrasse 1, Neuherberg, Germany.
  • Östereicher MA; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstaedter Landstrasse 1, Neuherberg, Germany.
  • Rathkolb B; Institute of Experimental Genetics, Applied Computational Biology, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstaedter Landstrasse 1, Neuherberg, Germany.
  • Sanz-Moreno A; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstaedter Landstrasse 1, Neuherberg, Germany.
  • Stöger C; German Center for Diabetes Research (DZD), Ingolstaedter Landstrasse 1, 85764, Neuherberg, Germany.
  • Hölter SM; Institute of Molecular Animal Breeding and Biotechnology, Gene Center, Ludwig-Maximilians-Universität München, Feodor-Lynen Strasse 25, 81377, Munich, Germany.
  • Seisenberger C; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstaedter Landstrasse 1, Neuherberg, Germany.
  • Marschall S; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstaedter Landstrasse 1, Neuherberg, Germany.
  • Fuchs H; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstaedter Landstrasse 1, Neuherberg, Germany.
  • Gailus-Durner V; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstaedter Landstrasse 1, Neuherberg, Germany.
  • Hrabe de Angelis M; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstaedter Landstrasse 1, Neuherberg, Germany.
Mamm Genome ; 34(2): 244-261, 2023 06.
Article en En | MEDLINE | ID: mdl-37160609
Rare diseases (RDs) are a challenge for medicine due to their heterogeneous clinical manifestations and low prevalence. There is a lack of specific treatments and only a few hundred of the approximately 7,000 RDs have an approved regime. Rapid technological development in genome sequencing enables the mass identification of potential candidates that in their mutated form could trigger diseases but are often not confirmed to be causal. Knockout (KO) mouse models are essential to understand the causality of genes by allowing highly standardized research into the pathogenesis of diseases. The German Mouse Clinic (GMC) is one of the pioneers in mouse research and successfully uses (preclinical) data obtained from single-gene KO mutants for research into monogenic RDs. As part of the International Mouse Phenotyping Consortium (IMPC) and INFRAFRONTIER, the pan-European consortium for modeling human diseases, the GMC expands these preclinical data toward global collaborative approaches with researchers, clinicians, and patient groups.Here, we highlight proprietary genes that when deleted mimic clinical phenotypes associated with known RD targets (Nacc1, Bach2, Klotho alpha). We focus on recognized RD genes with no pre-existing KO mouse models (Kansl1l, Acsf3, Pcdhgb2, Rabgap1, Cox7a2) which highlight novel phenotypes capable of optimizing clinical diagnosis. In addition, we present genes with intriguing phenotypic data (Zdhhc5, Wsb2) that are not presently associated with known human RDs.This report provides comprehensive evidence for genes that when deleted cause differences in the KO mouse across multiple organs, providing a huge translational potential for further understanding monogenic RDs and their clinical spectrum. Genetic KO studies in mice are valuable to further explore the underlying physiological mechanisms and their overall therapeutic potential.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Raras Tipo de estudio: Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Mamm Genome Asunto de la revista: GENETICA Año: 2023 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos
Texto completo
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Imprimir
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Raras Tipo de estudio: Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Mamm Genome Asunto de la revista: GENETICA Año: 2023 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos