PuSH - Publikationsserver des Helmholtz Zentrums München

Export: TXT Text RIS Endnote (RIS) BIB BibTeX
Kumar, S.* ; Rathkolb, B.* ; Kemter, E.* ; Sabrautzki, S. ; Michel, D. ; Adler, T. ; Becker, L. ; Beckers, J. ; Busch, D.H.* ; Garrett, L. ; Hans, W. ; Hölter, S.M. ; Horsch, M. ; Klingenspor, M.* ; Klopstock, T.* ; Rácz, I.* ; Rozman, J. ; Vargas Panesso, I.L. ; Vernaleken, A. ; Zimmer, A.* ; Fuchs, H. ; Gailus-Durner, V. ; Hrabě de Angelis, M. ; Wolf, E.* ; Aigner, B.*

Generation and standardized, systemic phenotypic analysis of Pou3f3L423P mutant mice.

PLoS ONE 11:e0150472 (2016)
Verlagsversion DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
Increased levels of blood plasma urea were used as phenotypic parameter for establishing novel mouse models for kidney diseases on the genetic background of C3H inbred mice in the phenotype-driven Munich ENU mouse mutagenesis project. The phenotypically recessive mutant line HST011 was established and further analyzed. The causative mutation was detected in the POU domain, class 3 transcription factor 3 (Pou3f3) gene, which leads to the amino acid exchange Pou3f3L423P thereby affecting the conserved homeobox domain of the protein. Pou3f3 homozygous knockout mice are published and show perinatal death. Line Pou3f3L423P is a viable mouse model harboring a homozygous Pou3f3 mutation. Standardized, systemic phenotypic analysis of homozygous mutants was carried out in the German Mouse Clinic. Main phenotypic changes were low body weight and a state of low energy stores, kidney dysfunction and secondary effects thereof including low bone mineralization, multiple behavioral and neurological defects including locomotor, vestibular, auditory and nociceptive impairments, as well as multiple subtle changes in immunological parameters. Genome-wide transcriptome profiling analysis of kidney and brain of Pou3f3L423P homozygous mutants identified significantly regulated genes as compared to wild-type controls.
Impact Factor
Scopus SNIP
Web of Science
Times Cited
Scopus
Cited By
Altmetric
3.057
1.044
8
10
Tags
Anmerkungen
Besondere Publikation
Auf Hompepage verbergern

Zusatzinfos bearbeiten
Eigene Tags bearbeiten
Privat
Eigene Anmerkung bearbeiten
Privat
Auf Publikationslisten für
Homepage nicht anzeigen
Als besondere Publikation
markieren
Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Mouse Mutagenesis Project; Kidney-disease; Crucial Roles; Mutation; Genes; Expression; Uromodulin; Models; Brn-1
Sprache deutsch
Veröffentlichungsjahr 2016
HGF-Berichtsjahr 2016
ISSN (print) / ISBN 1932-6203
Zeitschrift PLoS ONE
Quellenangaben Band: 11, Heft: 3, Seiten: , Artikelnummer: e0150472 Supplement: ,
Verlag Public Library of Science (PLoS)
Verlagsort Lawrence, Kan.
Begutachtungsstatus Peer reviewed
Institut(e) CF Comparative Medicine (AVM)
Institute of Experimental Genetics (IEG)
Institute of Developmental Genetics (IDG)
POF Topic(s) 30202 - Environmental Health
30201 - Metabolic Health
90000 - German Center for Diabetes Research
30204 - Cell Programming and Repair
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-500900-001
G-500600-001
G-501900-063
G-500692-001
G-500600-004
G-500500-001
G-501900-066
DOI 10.1371/journal.pone.0150472
WOS ID WOS:000372697400014
Scopus ID 84962449714
PubMed ID 27003440
Erfassungsdatum 2016-04-13
[➜Korrektur melden]