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Fuchs, H. ; Sabrautzki, S. ; Przemeck, G.K.H. ; Leuchtenberger, S. ; Lorenz-Depiereux, B. ; Becker, L. ; Rathkolb, B. ; Horsch, M. ; Garrett, L. ; Östereicher, M.A. ; Hans, W. ; Abe, K.* ; Sagawa, N.* ; Rozman, J. ; Vargas Panesso, I.L. ; Sandholzer, M. ; Lisse, T.S. ; Adler, T. ; Aguilar-Pimentel, J.A. ; Calzada-Wack, J. ; Ehrhard, N. ; Elvert, R. ; Gau, C. ; Hölter, S.M. ; Micklich, K. ; Moreth, K. ; Prehn, C. ; Puk, O. ; Rácz, I.* ; Stoeger, C. ; Vernaleken, A. ; Michel, D. ; Diener, S. ; Wieland, T. ; Adamski, J. ; Bekeredjian, R.* ; Lengger, C. ; Maier, H. ; Neff, F. ; Ollert, M.* ; Stöger, T. ; Yildirim, A.Ö. ; Strom, T.M. ; Zimmer, A.* ; Wolf, E.* ; Wurst, W. ; Klopstock, T.* ; Beckers, J. ; Gailus-Durner, V. ; Hrabě de Angelis, M.

The first Scube3 mutant mouse line with pleiotropic phenotypic alterations.

Genes Genomes Genetics G3 6, 4035-4046 (2016)
Verlagsversion Postprint Forschungsdaten DOI
Open Access Gold
Creative Commons Lizenzvertrag
The vertebrate Scube (Signal peptide, CUB and EGF-like domain-containing protein) family consists of three independent members Scube1-3, which encode secreted cell surface-associated membrane glycoproteins. Limited information about the general function of this gene family is available, and their roles during adulthood. Here, we present the first Scube3 mutant mouse line (Scube3N294K/N294K) that clearly shows phenotypic alterations by carrying a missense mutation in exon 8, and thus contributes to understand SCUBE3 functions. We performed a detailed phenotypic characterization in the German Mouse Clinic (GMC). Scube3N294K/N294K mutants showed morphological abnormalities of the skeleton, alterations of parameters relevant for bone metabolism, changes in renal function and hearing impairments. These findings correlate with characteristics of the rare metabolic bone disorder Paget disease of bone (PDB), associated with the chromosomal region of human SCUBE3. In addition, alterations in energy metabolism, behavior and neurological functions were detected in Scube3N294K/N294K mice. The Scube3N294K/N294K mutant mouse line may serve as a new model for further studying the effect of impaired SCUBE3 gene function.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter SCUBE3; Paget disease of bone (PDB); mouse model; pleiotropy; systemic phenotype; Epithelial-mesenchymal Transition; Genome-wide Association; Pagets-disease; Calcium-metabolism; Marfan-syndrome; Kidney Injury; Lung-cancer; Rat-kidney; Cub Domain; Expression
Sprache englisch
Veröffentlichungsjahr 2016
HGF-Berichtsjahr 2016
ISSN (print) / ISBN 2160-1836
e-ISSN 2160-1836
Zeitschrift Genes Genomes Genetics G3
Quellenangaben Band: 6, Heft: 12, Seiten: 4035-4046 Artikelnummer: , Supplement: ,
Verlag Genetics Society of America
Verlagsort Pittsburgh, PA
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Experimental Genetics (IEG)
Institute of Human Genetics (IHG)
Institute of Developmental Genetics (IDG)
Institute of Pathology (PATH)
Molekulare Endokrinologie und Metabolismus (MEM)
Institute of Lung Health and Immunity (LHI)
CF Comparative Medicine (AVM)
POF Topic(s) 30201 - Metabolic Health
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
30204 - Cell Programming and Repair
30504 - Mechanisms of Genetic and Environmental Influences on Health and Disease
30202 - Environmental Health
30502 - Diabetes: Pathophysiology, Prevention and Therapy
90000 - German Center for Diabetes Research
Forschungsfeld(er) Genetics and Epidemiology
Enabling and Novel Technologies
Lung Research
PSP-Element(e) G-500600-003
G-500692-001
G-500600-001
G-500700-001
G-500500-001
G-500300-001
G-505600-001
G-505000-001
G-505000-007
G-500600-004
G-500600-005
G-500500-002
G-500600-006
G-501900-066
G-500500-007
G-500900-001
DOI 10.1534/g3.116.033670
WOS ID WOS:000390591400023
Scopus ID 85008431867
Erfassungsdatum 2016-11-07
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