A mutation in the enamelin gene in a mouse model

H. Seedorf, M. Klaften, F. Eke, H. Fuchs, U. Seedorf, M. Hrabe De Angeĺis

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19 Scopus citations


Amelogenesis imperfecta is an inherited disorder affecting tooth enamel formation. We previously isolated a mouse strain with an amelogenesis imperfecta phenotype (ATE1 mice) from a dominant ethylnitrosourea screen and mapped the disease-causing defect to a 9-cM region of mouse chromosome 5. In the current study, we tested the hypothesis that there is a mutation in enamelin (ENAM) or ameloblastin (AMBN), both of which are located wihin the linkage region, by sequencing these two candidate genes. Analysis of our data shows that the amelogenesis imperfecta phenotype is linked to a C > T transition in exon 8 of the enamelin gene. The mutation predicts a C826T transition, which is present in the enamelin transcript and changes the glutamine (Gln) codon at position 176 into a premature stop codon (Gln176X). Conversely, no mutation could be detected in the ameloblastin gene. These results define the ATE1 mice as a model for local hypoplastic autosomal-dominant amelogenesis imperfecta (AIH2), which is caused by enamelin truncation mutations in humans.

Original languageEnglish
Pages (from-to)764-768
Number of pages5
JournalJournal of Dental Research
Issue number8
StatePublished - Aug 2007
Externally publishedYes


  • Amelogenesis imperfecta
  • Dental enamelin proteins
  • Ethylnitrosourea-induced mutagenesis
  • Mouse disease models
  • Mutational analysis


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