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The first Scube3 mutant mouse line with pleiotropic phenotypic alterations

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...

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Main Authors: Fuchs, Helmut (Author) , Sabrautzki, Sibylle (Author) , Przemeck, Gerhard K. H. (Author) , Leuchtenberger, Stefanie (Author) , Lorenz-Depiereux, Bettina (Author) , Becker, Lore (Author) , Rathkolb, Birgit (Author) , Horsch, Marion (Author) , Garrett, Lillian (Author) , Östereicher, Manuela A. (Author) , Hans, Wolfgang (Author) , Abe, Koichiro (Author) , Sagawa, Nobuho (Author) , Rozman, Jan (Author) , Vargas-Panesso, Ingrid L. (Author) , Sandholzer, Michael (Author) , Lisse, Thomas S. (Author) , Adler, Thure (Author) , Aguilar-Pimentel, Juan Antonio (Author) , Calzada-Wack, Julia (Author) , Ehrhard, Nicole (Author) , Elvert, Ralf (Author) , Gau, Christine (Author) , Hölter-Koch, Sabine (Author) , Micklich, Katja (Author) , Moreth, Kristin (Author) , Prehn, Cornelia (Author) , Puk, Oliver (Author) , Racz, Ildiko (Author) , Stoeger, Claudia (Author) , Vernaleken, Alexandra (Author) , Michel, Dian (Author) , Diener, Susanne (Author) , Wieland, Thomas (Author) , Adamski, Jerzy (Author) , Bekeredjian, Raffi (Author) , Busch, Dirk H. (Author) , Favor, John (Author) , Graw, Jochen (Author) , Klingenspor, Martin (Author) , Lengger, Christoph (Author) , Maier, Holger (Author) , Neff, Frauke (Author) , Ollert, Markus (Author) , Stoeger, Tobias (Author) , Yildirim, Ali Önder (Author) , Strom, Tim M. (Author) , Zimmer, Andreas (Author) , Wolf, Eckhard (Author) , Wurst, Wolfgang (Author) , Klopstock, Thomas (Author) , Beckers, Johannes (Author) , Gailus-Durner, Valerie (Author) , Angelis, Martin Hrabé de (Author)
Format: Article (Journal)
Language:English
Published: November 4, 2016
In: G3: Genes, genomes, genetics
Year: 2016, Volume: 6, Issue: 12, Pages: 4035-4046
ISSN:2160-1836
DOI:10.1534/g3.116.033670
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1534/g3.116.033670
Verlag, lizenzpflichtig, Volltext: https://www.g3journal.org/content/6/12/4035
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Author Notes:Helmut Fuchs, Sibylle Sabrautzki, Gerhard K.H. Przemeck, Stefanie Leuchtenberger, Bettina Lorenz-Depiereux, Lore Becker, Birgit Rathkolb, Marion Horsch, Lillian Garrett, Manuela A. Östereicher, Wolfgang Hans, Koichiro Abe, Nobuho Sagawa, Jan Rozman, Ingrid L. Vargas-Panesso, Michael Sandholzer, Thomas S. Lisse, Thure Adler, Juan Antonio Aguilar-Pimentel, Julia Calzada-Wack, Nicole Ehrhard, Ralf Elvert, Christine Gau, Sabine M. Hölter, Katja Micklich, Kristin Moreth, Cornelia Prehn, Oliver Puk, Ildiko Racz, Claudia Stoeger, Alexandra Vernaleken, Dian Michel, Susanne Diener, Thomas Wieland, Jerzy Adamski, Raffi Bekeredjian, Dirk H. Busch, John Favor, Jochen Graw, Martin Klingenspor, Christoph Lengger, Holger Maier, Frauke Neff, Markus Ollert, Tobias Stoeger, Ali Önder Yildirim, Tim M. Strom, Andreas Zimmer, Eckhard Wolf, Wolfgang Wurst, Thomas Klopstock, Johannes Beckers, Valerie Gailus-Durner, and Martin Hrabé de Angelis

MARC

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520 |a 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), which clearly shows phenotypic alterations by carrying a missense mutation in exon 8, and thus contributes to our understanding of 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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700 1 |a Östereicher, Manuela A.  |e VerfasserIn  |4 aut 
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700 1 |a Rozman, Jan  |e VerfasserIn  |4 aut 
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700 1 |a Sandholzer, Michael  |e VerfasserIn  |4 aut 
700 1 |a Lisse, Thomas S.  |e VerfasserIn  |4 aut 
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700 1 |a Aguilar-Pimentel, Juan Antonio  |e VerfasserIn  |4 aut 
700 1 |a Calzada-Wack, Julia  |e VerfasserIn  |4 aut 
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700 1 |a Favor, John  |e VerfasserIn  |4 aut 
700 1 |a Graw, Jochen  |e VerfasserIn  |4 aut 
700 1 |a Klingenspor, Martin  |e VerfasserIn  |4 aut 
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700 1 |a Yildirim, Ali Önder  |e VerfasserIn  |4 aut 
700 1 |a Strom, Tim M.  |e VerfasserIn  |4 aut 
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