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da Silva Buttkus, P. ; Spielmann, N. ; Klein-Rodewald, T. ; Schütt, C. ; Aguilar-Pimentel, J.A. ; Amarie, O.V. ; Becker, L. ; Calzada-Wack, J. ; Garrett, L. ; Gerlini, R. ; Kraiger, M. ; Leuchtenberger, S. ; Östereicher, M.A. ; Rathkolb, B. ; Sanz-Moreno, A. ; Stoeger, C. ; Hölter, S.M. ; Seisenberger, C. ; Marschall, S. ; Fuchs, H. ; Gailus-Durner, V. ; Hrabě de Angelis, M.

Knockout mouse models as a resource for the study of rare diseases.

Mamm. Genome 34, 244-261 (2023)
Verlagsversion DOI PMC
Open Access Hybrid
Creative Commons Lizenzvertrag
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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Benign Clinical-course; Warburg Micro Syndrome; Methylmalonic Aciduria; 17q21.31 Microdeletion; Rab3gap1 Mutations; Klotho; Bach2; Variants; Protein; Acsf3
Sprache englisch
Veröffentlichungsjahr 2023
HGF-Berichtsjahr 2023
ISSN (print) / ISBN 0938-8990
e-ISSN 1432-1777
Zeitschrift Mammalian Genome
Quellenangaben Band: 34, Heft: 2, Seiten: 244-261 Artikelnummer: , Supplement: ,
Verlag Springer
Verlagsort One New York Plaza, Suite 4600, New York, Ny, United States
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Experimental Genetics (IEG)
Institute of Developmental Genetics (IDG)
POF Topic(s) 30201 - Metabolic Health
30204 - Cell Programming and Repair
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-500600-001
G-500692-001
G-500500-001
DOI 10.1007/s00335-023-09986-z
WOS ID 000983585400002
Scopus ID 85158977600
PubMed ID 37160609
Erfassungsdatum 2023-10-06
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