Mouse Genome Informatics
hm1
    AmelxRgsc888/AmelxRgsc888
involves: C57BL/6JJcl * DBA/2J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• in incisors ameloblasts appear to lose contact with their subadjacent matrix and their cytoplasm becomes atypically eosinophilic (J:157947)
• in the transition and maturation zones cells become highly disorganized with the ameloblasts losing their characteristic columnar morphology and forming a multi-cellular mass (J:157947)
• severely hypoplastic (J:157947)
• large areas of enamel are missing (J:157947)

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


Mouse Genome Informatics
ht2
    AmelxRgsc888/Amelx+
involves: C57BL/6JJcl * DBA/2J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• occasional small blister like structures of variable size are apparent from the late secretory stage onwards (J:157947)
• within the blister like structures aberrant matrix is present with areas appearing less eosinophilic than the original enamel matrix (J:157947)
• decrease in enamel mineral content (J:157947)
• but no defect in dentine mineral levels (J:157947)
• incisors display patchy regions of roughened, chalky white enamel (J:157947)
• patchy regions of chalky white enamel (J:157947)
• the upper and lower incisors are shortened (J:157947)
• incisors display patchy regions of roughened, chalky white enamel (J:157947)
• by SEM the prismatic structure is less highly ordered with greater inter-prismatic spacing (J:157947)
• shortened with irregular incisal edge (J:157947)

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


Mouse Genome Informatics
ht3
    AmelxRgsc888/Amelx+
involves: C57BL/6JJcl * DBA/2JJcl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• rough tooth surface (J:133634)


Mouse Genome Informatics
ot4
    AmelxRgsc888/Y
involves: C57BL/6JJcl * DBA/2J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• mandible is enlarged, eroded and discolored, containing a large mass of soft tissue (J:157947)
• at the ameloblast enamel interface the regular pattern of Tomes' process insertions is absent and instead there is a disorganized vesicular pattern (J:157947)
• in both incisors and molars, ameloblasts appear to lose contact with their sub-adjacent matrix and their cytoplasm becomes atypically eosinophilic (J:157947)
• in the transition and maturation zones cells become highly disorganized with the ameloblasts losing their characteristic columnar morphology and forming a multi cellular (J:157947)
• much of debris of the multi cellular masses is either TUNEL- or activated caspase-3-positive (J:157947)
• eosinophilic structures are visible throughout the cell and appear to be vesicular in nature with accumulations of both amelogenin and ameloblastin in affected cells (J:157947)
• contact of the ameloblasts with the enamel matrix is lost leading to the formation of out-pocketings containing eosinophilic material (J:157947)
• the mineralizing enamel distal to the white opaque zone is irregular and discolored with ridges perpendicular to the long axis of the incisor (J:157947)
• entire enamel surface is roughened opaque and chalky white (J:157947)
• frequently have an irregular incisal edge (J:157947)
• opaque and chalky white enamel (J:157947)
• the upper and lower incisors are shortened (J:157947)
• opaque and roughened, with abrasion of the cusps (J:157947)
• the upper and lower incisors are uneven and present a chalky white, opaque appearance with roughened/pitted surfaces (J:157947)
• large areas of the teeth lack enamel (J:157947)
• by SEM enamel is severely dysplastic non-prismatic 'enamel' with a smooth glass-like appearance and no evidence of clear prismatic structure (J:157947)
• shortened with irregular incisal edge (J:157947)

skeleton
• mandible is enlarged, eroded and discolored, containing a large mass of soft tissue (J:157947)

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