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 Fuchs1, Sibylle Sabrautzki, Hartwig Seedorf
1German Mouse Clinic, Helmholtz Zentrum München, Neuherberg/Munich, Germany.
Abstract:
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 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.
Insights
Enamelin gene mutations cause amelogenesis imperfecta in mice. These enamelin defects also impact bone, energy metabolism, and blood parameters, suggesting pleiotropic effects beyond teeth.
Area of Science:
- Genetics and Molecular Biology
- Developmental Biology
- Mouse Models
Background:
- The enamelin gene is crucial for tooth enamel formation.
- Mutations in enamelin can lead to developmental defects in teeth.
Purpose of the Study:
- To investigate the systemic effects of enamelin gene mutations.
- To analyze the pleiotropic consequences of enamelin defects in mouse models.
Main Methods:
- Analysis of two mouse lines (ATE1 and ATE2) with enamelin gene point mutations.
- Systematic, standardized phenotypic analysis at the German Mouse Clinic.
- Evaluation of tooth, bone, energy metabolism, clinical chemistry, and hematology.
Main Results:
- Both ATE1 and ATE2 mouse lines exhibit amelogenesis imperfecta.
- Enamelin mutations affected bone and energy metabolism.
- Clinical chemical and hematological parameters were altered in mutant mice.
Conclusions:
- Enamelin gene mutations have pleiotropic effects extending beyond dental tissues.
- Enamelin defects impact multiple organ systems, including bone and metabolism.
- Further research is warranted to elucidate the mechanisms of these systemic effects.
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