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Phenotypes Associated with This Genotype
Genotype
MGI:4438261
Allelic
Composition
AmelxRgsc888/Y
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 (17 available)
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
• 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
• 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
• 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

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

growth/size/body
• 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
• 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
• 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 ID Ref(s)
Amelogenesis Imperfecta, Type IE; AI1E 301200 J:157947


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/24/2016
MGI 6.04
The Jackson Laboratory