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Phenotypes Associated with This Genotype
Genotype
MGI:4438260
Allelic
Composition
AmelxRgsc888/Amelx+
Genetic
Background
involves: C57BL/6JJcl * DBA/2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
AmelxRgsc888 mutation (0 available); any Amelx mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• incisors display patchy regions of roughened, chalky white enamel
• patchy regions of chalky white enamel
• the upper and lower incisors are shortened
• occasional small blister like structures of variable size are apparent from the late secretory stage onwards
• within the blister like structures aberrant matrix is present with areas appearing less eosinophilic than the original enamel matrix
• decrease in enamel mineral content
• but no defect in dentine mineral levels
• incisors display patchy regions of roughened, chalky white enamel
• by SEM the prismatic structure is less highly ordered with greater inter-prismatic spacing
• shortened with irregular incisal edge

skeleton
• incisors display patchy regions of roughened, chalky white enamel
• patchy regions of chalky white enamel
• the upper and lower incisors are shortened
• occasional small blister like structures of variable size are apparent from the late secretory stage onwards
• within the blister like structures aberrant matrix is present with areas appearing less eosinophilic than the original enamel matrix
• decrease in enamel mineral content
• but no defect in dentine mineral levels
• incisors display patchy regions of roughened, chalky white enamel
• by SEM the prismatic structure is less highly ordered with greater inter-prismatic spacing
• shortened with irregular incisal edge

growth/size/body
• incisors display patchy regions of roughened, chalky white enamel
• patchy regions of chalky white enamel
• the upper and lower incisors are shortened
• occasional small blister like structures of variable size are apparent from the late secretory stage onwards
• within the blister like structures aberrant matrix is present with areas appearing less eosinophilic than the original enamel matrix
• decrease in enamel mineral content
• but no defect in dentine mineral levels
• incisors display patchy regions of roughened, chalky white enamel
• by SEM the prismatic structure is less highly ordered with greater inter-prismatic spacing
• shortened with irregular incisal edge

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
amelogenesis imperfecta type 1E DOID:0110058 OMIM:301200
J:157947


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/05/2017
MGI 6.11
The Jackson Laboratory