A mutation in the enamelin gene in a mouse model

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

Research output: Contribution to journalArticlepeer-review

19 Scopus citations

Abstract

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
Volume86
Issue number8
DOIs
StatePublished - Aug 2007
Externally publishedYes

Keywords

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

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