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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Does enamelin have pleiotropic effects on organs other than the teeth? Lessons from a phenotyping screen of two enamelin-mutant mouse lines. / 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; Angelis, de; Hrabě, Martin.
in: EUR J ORAL SCI, Jahrgang 120, Nr. 4, 4, 2012, S. 269-277.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Does enamelin have pleiotropic effects on organs other than the teeth? Lessons from a phenotyping screen of two enamelin-mutant mouse lines.
AU - Fuchs, Helmut
AU - Sabrautzki, Sibylle
AU - Seedorf, Hartwig
AU - Rathkolb, Birgit
AU - Rozman, Jan
AU - Hans, Wolfgang
AU - Schneider, Ralf
AU - Klaften, Matthias
AU - Hölter, Sabine M
AU - Becker, Lore
AU - Klempt, Martina
AU - Elvert, Ralf
AU - Wurst, Wolfgang
AU - Klopstock, Thomas
AU - Klingenspor, Martin
AU - Wolf, Eckhard
AU - Gailus-Durner, Valérie
AU - Angelis, de
AU - Hrabě, Martin
PY - 2012
Y1 - 2012
N2 - 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.
AB - 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.
KW - Animals
KW - Disease Models, Animal
KW - Mice
KW - Mice, Knockout
KW - Phenotype
KW - Point Mutation
KW - Amelogenesis Imperfecta/blood/genetics/physiopathology
KW - Dental Enamel Proteins/genetics
KW - Genes, Dominant/physiology
KW - Genetic Pleiotropy/physiology
KW - Animals
KW - Disease Models, Animal
KW - Mice
KW - Mice, Knockout
KW - Phenotype
KW - Point Mutation
KW - Amelogenesis Imperfecta/blood/genetics/physiopathology
KW - Dental Enamel Proteins/genetics
KW - Genes, Dominant/physiology
KW - Genetic Pleiotropy/physiology
M3 - SCORING: Journal article
VL - 120
SP - 269
EP - 277
JO - EUR J ORAL SCI
JF - EUR J ORAL SCI
SN - 0909-8836
IS - 4
M1 - 4
ER -
