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Does enamelin have pleiotropic effects on organs other than the teeth? Lessons from a phenotyping screen of two enamelin‐mutant mouse lines
Author(s) -
Fuchs Helmut,
Sabrautzki Sibylle,
Seedorf Hartwig,
Rathkolb Birgit,
Rozman Jan,
Hans Wolfgang,
Schneider Ralf,
Klaften Matthias,
Hölter Sabine M.,
Becker Lore,
Klempt Martina,
Elvert Ralf,
Wurst Wolfgang,
Klopstock Thomas,
Klingenspor Martin,
Wolf Eckhard,
GailusDurner Valérie,
Angelis Martin Hrabě
Publication year - 2012
Publication title -
european journal of oral sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.802
H-Index - 93
eISSN - 1600-0722
pISSN - 0909-8836
DOI - 10.1111/j.1600-0722.2012.00966.x
Subject(s) - mutant , phenotype , biology , genetics , point mutation , exon , mutation , gene , microbiology and biotechnology
We analyzed two mutant mouse lines, ATE 1 and ATE 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 G erman M ouse C 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.