| First Author | Seedorf H | Year | 2004 |
| Journal | J Dent Res | Volume | 83 |
| Issue | 8 | Pages | 608-12 |
| PubMed ID | 15271968 | Mgi Jnum | J:92107 |
| Mgi Id | MGI:3051784 | Doi | 10.1177/154405910408300805 |
| Citation | Seedorf H, et al. (2004) Amelogenesis imperfecta in a new animal model--a mutation in chromosome 5 (human 4q21). J Dent Res 83(8):608-12 |
| abstractText | 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. |
