Helmholtz Gemeinschaft


Amelogenesis imperfecta in a new animal model - a mutation in chromosome 5 (human 4q21)

Item Type:Article
Title:Amelogenesis imperfecta in a new animal model - a mutation in chromosome 5 (human 4q21)
Creators Name:Seedorf, H. and Springer, I.N. and Grundner-Culemann, E. and Albers, H.K. and Reis, A. and Fuchs, H. and de Angelis, M.H. and Acil, Y.
Abstract: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.
Keywords:Amelogenesis Imperfecta (AI), Collagen Cross-Links, Hydroxyproline, Pyridinoline, Structure, Animals, Mice
Source:Journal of Dental Research
Publisher:International & American Associations for Dental Research
Page Range:608-612
Date:1 January 2004
Official Publication:https://doi.org/10.1177/154405910408300805
PubMed:View item in PubMed

Repository Staff Only: item control page

Open Access
MDC Library