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

doi:10.1111/j.1600-0722.2012.00966.x

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Article

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

European journal of oral sciences - 1 Aug 2012

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, Gailus-Durner Valérie, de Angelis Martin Hrabě

Abstract excerpt

We analyzed two mutant mouse lines, ATE1 and ATE2, 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 German Mouse Clinic. In...

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PMID: 22813216
DOI: 10.1111/j.1600-0722.2012.00966.x

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ATE1

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