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A Mutation in the Enamelin Gene in a Mouse Model

¹ Department of Prosthetic Dentistry, University Medical Center, Hamburg-Eppendorf, Martinistr. 52, D-20246 Hamburg, Germany;
² GSF National Research Center for Environment and Health, Institute of Experimental Genetics, Ingolstaedter Landstrasse 1, D-85764 Oberschleissheim, Germany; and
³ Center of Internal Medicine, Department of Internal Medicine, Nephrology/Rheumatology with Section Endocrinology, University Medical Center, Hamburg-Eppendorf 52, D-20246, Germany

View larger version (33K): [in this window] [in a new window]   Figure 1. Phenotype of the ATE1 mutant mice. Homozygotes and heterozygotes differ from wild-type mice based on the shown tooth abnormalities. Wild-type mice (left) have brown incisors, whereas teeth in heterozygous ATE1 mice (middle) have a whitish, chalk-like appearance. Homozygotes (right) show complete loss of enamel in the front and molar teeth.

View larger version (23K): [in this window] [in a new window]   Figure 2. Haplotype diagram of 5 SNP markers on chromosome 5. The haplotype structure of the analyzed markers between 55 Mb and 112 Mb shows the strongest linkage with marker rs31585424.

View larger version (36K): [in this window] [in a new window]   Figure 3a. Identification of a C826T (Gln176X) mutation in exon 8 of the ENAM gene. Shown are sequence tracings (left — plus strand, forward; right — minus strand, reverse) obtained for exon 8 of the ENAM gene from a homozygous ATE1 mouse (top) and a C57BL/6 control (bottom). The amino acid sequence derived after translation of the ENAM cDNA is given below the nucleotide sequence. The mutated nucleotide is underlined; ###, translational termination signal.

View larger version (52K): [in this window] [in a new window]   Figure 3b. Comparison of sequence tracings obtained for wild-type and heterozygous or homozygous ATE1 mice. Mice were categorized according to their phenotypes (see Fig. 1), and 3 mice of each group were genotyped by DNA sequencing for the C826T allele as described in the METHODS section. The mutated nucleotide is underlined.

Journal of Dental Research, Vol. 86, No. 8, 764-768 (2007)
DOI: 10.1177/154405910708600815


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