Mouse Genome Informatics
ot
    AmelxRgsc888/Y
involves: C57BL/6JJcl * DBA/2J
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• mandible is enlarged, eroded and discolored, containing a large mass of soft tissue
• at the ameloblast enamel interface the regular pattern of Tomes' process insertions is absent and instead there is a disorganized vesicular pattern
• in both incisors and molars, ameloblasts appear to lose contact with their sub-adjacent matrix and their cytoplasm becomes atypically eosinophilic
• in the transition and maturation zones cells become highly disorganized with the ameloblasts losing their characteristic columnar morphology and forming a multi cellular
• much of debris of the multi cellular masses is either TUNEL- or activated caspase-3-positive
• eosinophilic structures are visible throughout the cell and appear to be vesicular in nature with accumulations of both amelogenin and ameloblastin in affected cells
• contact of the ameloblasts with the enamel matrix is lost leading to the formation of out-pocketings containing eosinophilic material
• the mineralizing enamel distal to the white opaque zone is irregular and discolored with ridges perpendicular to the long axis of the incisor
• entire enamel surface is roughened opaque and chalky white
• frequently have an irregular incisal edge
• opaque and chalky white enamel
• the upper and lower incisors are shortened
• opaque and roughened, with abrasion of the cusps
• large areas of the teeth lack enamel
• the upper and lower incisors are uneven and present a chalky white, opaque appearance with roughened/pitted surfaces
• by SEM enamel is severely dysplastic non-prismatic 'enamel' with a smooth glass-like appearance and no evidence of clear prismatic structure
• shortened with irregular incisal edge

skeleton
• mandible is enlarged, eroded and discolored, containing a large mass of soft tissue

growth/size/body
• at the ameloblast enamel interface the regular pattern of Tomes' process insertions is absent and instead there is a disorganized vesicular pattern
• in both incisors and molars, ameloblasts appear to lose contact with their sub-adjacent matrix and their cytoplasm becomes atypically eosinophilic
• in the transition and maturation zones cells become highly disorganized with the ameloblasts losing their characteristic columnar morphology and forming a multi cellular
• much of debris of the multi cellular masses is either TUNEL- or activated caspase-3-positive
• eosinophilic structures are visible throughout the cell and appear to be vesicular in nature with accumulations of both amelogenin and ameloblastin in affected cells
• contact of the ameloblasts with the enamel matrix is lost leading to the formation of out-pocketings containing eosinophilic material
• the mineralizing enamel distal to the white opaque zone is irregular and discolored with ridges perpendicular to the long axis of the incisor
• entire enamel surface is roughened opaque and chalky white
• frequently have an irregular incisal edge
• opaque and chalky white enamel
• the upper and lower incisors are shortened
• opaque and roughened, with abrasion of the cusps
• the upper and lower incisors are uneven and present a chalky white, opaque appearance with roughened/pitted surfaces
• large areas of the teeth lack enamel
• by SEM enamel is severely dysplastic non-prismatic 'enamel' with a smooth glass-like appearance and no evidence of clear prismatic structure
• shortened with irregular incisal edge

Mouse Models of Human Disease
OMIM IDRef(s)
Amelogenesis Imperfecta, Type IE; AI1E 301200 J:157947