Does enamelin have pleiotropic effects on organs other than the teeth? Lessons from a phenotyping screen of two enamelin-mutant mouse lines.
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.
German Mouse Clinic, Helmholtz Zentrum München, Neuherberg/Munich, Germany.
Helmut
H
Fuchs
Sibylle
S
Sabrautzki
Hartwig
H
Seedorf
Birgit
B
Rathkolb
Jan
J
Rozman
Wolfgang
W
Hans
Ralf
R
Schneider
Matthias
M
Klaften
Sabine M
SM
Hölter
Lore
L
Becker
Martina
M
Klempt
Ralf
R
Elvert
Wolfgang
W
Wurst
Thomas
T
Klopstock
Martin
M
Klingenspor
Eckhard
E
Wolf
Valérie
V
Gailus-Durner
Martin Hrabě
MH
de Angelis
D000567:Amelogenesis Imperfecta / Q000097:blood / Q000235:genetics* / Q000503:physiopathology; D000818:Animals; D003746:Dental Enamel Proteins / Q000235:genetics*; D004195:Disease Models, Animal; D005799:Genes, Dominant / Q000502:physiology*; D058685:Genetic Pleiotropy / Q000502:physiology*; D051379:Mice; D018345:Mice, Knockout; D010641:Phenotype; D017354:Point Mutation
D003746:Dental Enamel Proteins; C038456:tuftelin