Amelogenesis Imperfecta in a New Animal Model—a Mutation in Chromosome 5 (human 4q21)

Candidate genes for amelogenesis imperfecta (AI) and dentinogenesis imperfecta (DI) are located on 4q21 in humans. We tested our hypothesis that mutations in the portion of mouse chromosome 5 corresponding to human chromosome 4q21 would cause enamel and dentin abnormalities. Male C3H mice were injec...

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Bibliographic Details
Published in:Journal of dental research 2004-08, Vol.83 (8), p.608-612
Main Authors: Seedorf, H., Springer, I.N., Grundner-Culemann, E., Albers, H.-K., Reis, A., Fuchs, H., Hrabe de Angelis, M., Açil, Y.
Format: Article
Language:English
Subjects:
Amelogenesis Imperfecta - genetics
Animals
Chromosome Mapping
Chromosomes, Human, Pair 4 - genetics
Chromosomes, Human, Pair 5 - genetics
Dental Enamel - pathology
Dental Enamel Proteins - genetics
Dentin - pathology
Disease Models, Animal
DNA Mutational Analysis
Ethylnitrosourea
Female
Genetic Testing
Humans
Male
Mice
Mice, Inbred C3H
Mice, Mutant Strains - genetics
Mutagenesis
Mutagens
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Summary:Candidate genes for amelogenesis imperfecta (AI) and dentinogenesis imperfecta (DI) are located on 4q21 in humans. We tested our hypothesis that mutations in the portion of mouse chromosome 5 corresponding to human chromosome 4q21 would cause enamel and dentin abnormalities. Male C3H mice were injected with ethylnitrosourea (ENU). Within a dominant ENU mutagenesis screen, a mouse mutant was isolated with an abnormal tooth enamel (ATE) phenotype. The structure and ultrastructure of teeth were studied. The mutation was located on mouse chromosome 5 in an interval of 9 cM between markers D5Mit18 and D5Mit10. Homozygotic mutants showed total enamel aplasia with exposed dentinal tubules, while heterozygotic mutants showed a significant reduction in enamel width. Dentin of mutant mice showed a reduced content of mature collagen cross-links. We were able to demonstrate that a mutation on chromosome 5 corresponding to human chromosome 4q21 can cause amelogenesis imperfecta and changes in dentin composition.
ISSN:0022-0345
1544-0591
DOI:10.1177/154405910408300805