Journal Article

DZNE-2020-05257

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png The First Scube3 Mutant Mouse Line with Pleiotropic Phenotypic Alterations.

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. ; Racz, I. ; Stoeger, C. ; Vernaleken, A. ; Michel, D. ; Diener, S. ; Wieland, T. ; Adamski, J. ; Bekeredjian, R. ; Busch, D. H. ; Favor, J. ; Graw, J. ; Klingenspor, M. ; Lengger, C. ; Maier, H. ; Neff, F. ; Ollert, M. ; Stoeger, T. ; Yildirim, A. Ö. ; Strom, T. M. ; Zimmer, A. ; Wolf, E. ; Wurst, W.DZNE* ; Klopstock, T.DZNE* ; Beckers, J. ; Gailus-Durner, V. ; Hrabé de Angelis, M. (Corresponding author)

2016
Genetics Soc. of America Pittsburgh, PA

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Please use a persistent id in citations: doi:10.1534/g3.116.033670

Abstract: 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.

Keyword(s): Calcium-Binding Proteins (MeSH) ; Animals (MeSH) ; Bone and Bones: metabolism (MeSH) ; Chromosome Mapping (MeSH) ; Disease Models, Animal (MeSH) ; Energy Metabolism: genetics (MeSH) ; Exome (MeSH) ; Female (MeSH) ; Gene Expression Profiling (MeSH) ; Genetic Association Studies (MeSH) ; Glycoproteins: genetics (MeSH) ; High-Throughput Nucleotide Sequencing (MeSH) ; Kidney: metabolism (MeSH) ; Kidney: physiopathology (MeSH) ; Kidney Function Tests (MeSH) ; Male (MeSH) ; Mice (MeSH) ; Mice, Knockout (MeSH) ; Mutation (MeSH) ; Osteitis Deformans: genetics (MeSH) ; Osteitis Deformans: metabolism (MeSH) ; Osteitis Deformans: pathology (MeSH) ; Phenotype (MeSH) ; Skeleton: abnormalities (MeSH) ; Glycoproteins ; Scube3 protein, mouse

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Contributing Institute(s):

1. Genome Engineering (AG Wurst)
2. Clinical Neurodegeneration (AG Levin)

Research Program(s):

1. 342 - Disease Mechanisms and Model Systems (POF3-342) (POF3-342)
2. 344 - Clinical and Health Care Research (POF3-344) (POF3-344)

Appears in the scientific report 2016

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Database coverage:
; ; ; ; BIOSIS Previews ; Clarivate Analytics Master Journal List ; DOAJ Seal ; Ebsco Academic Search ; IF < 5 ; JCR ; NCBI Molecular Biology Database ; PubMed Central ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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