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          Institute: MPI für Psychiatrie     Collection: Publikationen MPI für Psychiatrie     Display Documents

ID: 563799.0, MPI für Psychiatrie / Publikationen MPI für Psychiatrie
A Novel N-ethyl-N-nitrosourea-Induced Mutation in Phospholipase C gamma 2 Causes Inflammatory Arthritis, Metabolic Defects, and Male Infertility In Vitro in a Murine Model
Authors:Abe, K.; Fuchs, H.; Boersma, A.; Hans, W.; Yu, P.; Kalaydjiev, S.; Klaften, M.; Adler, T.; Calzada-Wack, J.; Mossbrugger, I.; Rathkolb, B.; Rozman, J.; Prehn, C.; Maraslioglu, M.; Kametani, Y.; Shimada, S.; Adamski, J.; Busch, D. H.; Esposito, I.; Klingenspor, M.; Wolf, E.; Wurst, W.; Gailus-Durner, V.; Katan, M.; Marschall, S.; Soewarto, D.; Wagner, S.; de Angelis, M. H.
Date of Publication (YYYY-MM-DD):2011-05
Title of Journal:Arthritis and Rheumatism
Issue / Number:5
Start Page:1301
End Page:1311
Review Status:not specified
Audience:Not Specified
Abstract / Description:Objective. It is difficult to identify a single causative factor for inflammatory arthritis because of the multifactorial nature of the disease. This study was undertaken to dissect the molecular complexity of systemic inflammatory disease, utilizing a combined approach of mutagenesis and systematic phenotype screening in a murine model. Methods. In a large-scale N-ethyl-N-nitrosourea mutagenesis project, the Ali14 mutant mouse strain was established because of dominant inheritance of spontaneous swelling and inflammation of the hind paws. Genetic mapping and subsequent candidate gene sequencing were conducted to find the causative gene, and systematic phenotyping of Ali14/+ mice was performed in the German Mouse Clinic. Results. A novel missense mutation in the phospholipase C gamma 2 gene (Plcg2) was identified in Ali14/+ mice. Because of the hyperreactive external entry of calcium observed in cultured B cells and other in vitro experiments, the Ali14 mutation is thought to be a novel gain-of-function allele of Plcg2. Findings from systematic screening of Ali14/+ mice demonstrated various phenotypic changes: an abnormally high T cell: B cell
External Publication Status:published
Document Type:Article
Version Comment:Automatic journal name synchronization
Communicated by:N. N.
Affiliations:MPI für Psychiatrie
Identifiers:ISI:000290609800018 [ID No:1]
ISSN:0004-3591 [ID No:2]
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