RRC ID 4380
Author Masuyama T, Miyajima K, Ohshima H, Osawa M, Yokoi N, Oikawa T, Taniguchi K.
Title A novel autosomal-recessive mutation, whitish chalk-like teeth, resembling amelogenesis imperfecta, maps to rat chromosome 14 corresponding to human 4q21.
Journal Eur. J. Oral Sci.
Abstract A rat mutant, whitish chalk-like teeth (wct), with white, chalk-like abnormal incisors, was discovered and morphologically and genetically characterized. The mutant rats showed tooth enamel defects that were similar to those of human amelogenesis imperfecta. The wct mutation was found to disturb the morphological transition of ameloblasts from secretory to maturation stages and to induce cyst formation. This mutation also disturbs the transfer of iron into the enamel, resulting in the whitish chalk-like incisors. A genetic linkage study indicated that the wct locus maps to a specific interval of rat chromosome 14 between D14Got13 and D14Wox2. Interestingly, the human chromosomal region orthologous to wct, a 5.5-Mb interval in human chromosome 4q21, is a critical region for the locus of human amelogenesis imperfecta AIH2. These results strongly suggest that this wct mutant is a useful model for the identification of genes responsible for amelogenesis imperfecta and molecular mechanisms of tooth development.
Volume 113(6)
Pages 451-6
Published 2005-12
DOI 10.1111/j.1600-0722.2005.00254.x
PMID 16324133
MeSH Ameloblasts / cytology* Amelogenesis Imperfecta / genetics* Animals Cell Differentiation Chromosome Disorders / genetics* Chromosome Mapping* Chromosomes, Human, Pair 4 Disease Models, Animal Female Genes, Recessive / genetics* Genetic Linkage Humans Male Mice Rats Rats, Inbred F344 Rats, Mutant Strains / genetics* Rats, Sprague-Dawley
IF 1.81
Times Cited 4
Rats WT/Jtt(strainID=476)