Does enamelin have pleiotropic effects on organs other than the teeth? Lessons from a phenotyping screen of two enamelin‐mutant mouse lines

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  • Helmut Fuchs
    German Mouse Clinic Helmholtz Zentrum München Neuherberg/Munich Germany
  • Sibylle Sabrautzki
    German Mouse Clinic Helmholtz Zentrum München Neuherberg/Munich Germany
  • Hartwig Seedorf
    Department of Prosthetic Dentistry University Medical Center Hamburg‐Eppendorf
  • Birgit Rathkolb
    German Mouse Clinic Helmholtz Zentrum München Neuherberg/Munich Germany
  • Jan Rozman
    German Mouse Clinic Helmholtz Zentrum München Neuherberg/Munich Germany
  • Wolfgang Hans
    German Mouse Clinic Helmholtz Zentrum München Neuherberg/Munich Germany
  • Ralf Schneider
    German Mouse Clinic Helmholtz Zentrum München Neuherberg/Munich Germany
  • Matthias Klaften
    German Mouse Clinic Helmholtz Zentrum München Neuherberg/Munich Germany
  • Sabine M. Hölter
    Institute of Developmental Genetics Helmholtz Zentrum München Neuherberg/Munich Germany
  • Lore Becker
    German Mouse Clinic Helmholtz Zentrum München Neuherberg/Munich Germany
  • Martina Klempt
    German Mouse Clinic Helmholtz Zentrum München Neuherberg/Munich Germany
  • Ralf Elvert
    German Mouse Clinic Helmholtz Zentrum München Neuherberg/Munich Germany
  • Wolfgang Wurst
    Institute of Developmental Genetics Helmholtz Zentrum München Neuherberg/Munich Germany
  • Thomas Klopstock
    Department of Neurology Ludwig‐Maximilians‐Universität München Munich
  • Martin Klingenspor
    Molecular Nutritional Medicine Technische Universität München Freising‐Weihenstephan
  • Eckhard Wolf
    Chair for Molecular Animal Breeding and Biotechnology Ludwig‐Maximilians‐Universität München Munich
  • Valérie Gailus‐Durner
    German Mouse Clinic Helmholtz Zentrum München Neuherberg/Munich Germany
  • Martin Hrabě de Angelis
    German Mouse Clinic Helmholtz Zentrum München Neuherberg/Munich Germany

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<jats:p>We analyzed two mutant mouse lines, <jats:styled-content style="fixed-case">ATE</jats:styled-content>1 and <jats:styled-content style="fixed-case">ATE</jats:styled-content>2, that carry point mutations in the enamelin gene which result in premature stop codons in exon 8 and exon 7, respectively. Both mutant lines show amelogenesis imperfecta. To establish the effect of mutations within the enamelin gene on different organs, we performed a systematic, standardized phenotypic analysis of both mutant lines in the <jats:styled-content style="fixed-case">G</jats:styled-content>erman <jats:styled-content style="fixed-case">M</jats:styled-content>ouse <jats:styled-content style="fixed-case">C</jats:styled-content>linic. In addition to the initially characterized tooth phenotype that is present in both mutant lines, we detected effects of enamelin mutations on bone and energy metabolism, as well as on clinical chemical and hematological parameters. These data raise the hypothesis that enamelin defects have pleiotropic effects on organs other than the teeth.</jats:p>

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