The First Scube3 Mutant Mouse Line with Pleiotropic Phenotypic Alterations.

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 (Scube3^N294K/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). Scube3^N294K/N294K mutants showed morphological abnormalities of the skeleton, alterations of parameters relevant for bone metabolism, changes in r

SUBMITTER: Fuchs H 

PROVIDER: S-EPMC5144972 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature