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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
AmelxRgsc888
RIKEN Genomic Sciences Center (GSC), 888
MGI:3807977
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
AmelxRgsc888/AmelxRgsc888 involves: C57BL/6JJcl * DBA/2J MGI:4438262
ht2
AmelxRgsc888/Amelx+ involves: C57BL/6JJcl * DBA/2J MGI:4438260
ht3
AmelxRgsc888/Amelx+ involves: C57BL/6JJcl * DBA/2JJcl MGI:3807979
ot4
AmelxRgsc888/Y involves: C57BL/6JJcl * DBA/2J MGI:4438261


Genotype
MGI:4438262
hm1
Allelic
Composition
AmelxRgsc888/AmelxRgsc888
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 (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• severely hypoplastic
• large areas of enamel are missing
• in incisors ameloblasts appear to lose contact with their subadjacent 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 mass

growth/size/body
• severely hypoplastic
• large areas of enamel are missing
• in incisors ameloblasts appear to lose contact with their subadjacent 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 mass

skeleton
• severely hypoplastic
• large areas of enamel are missing
• in incisors ameloblasts appear to lose contact with their subadjacent 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 mass

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




Genotype
MGI:4438260
ht2
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 (25 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
• incisors display patchy regions of roughened, chalky white enamel
• 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
• no defect in dentine mineral levels
• 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
• incisors display patchy regions of roughened, chalky white enamel
• 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
• no defect in dentine mineral levels
• 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
• incisors display patchy regions of roughened, chalky white enamel
• 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
• no defect in dentine mineral levels
• 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




Genotype
MGI:3807979
ht3
Allelic
Composition
AmelxRgsc888/Amelx+
Genetic
Background
involves: C57BL/6JJcl * DBA/2JJcl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
AmelxRgsc888 mutation (0 available); any Amelx mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• rough tooth surface

growth/size/body
• rough tooth surface

skeleton
• rough tooth surface




Genotype
MGI:4438261
ot4
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 (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• 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
• molars are opaque and roughened, rather than smooth and opalescent as in wild-type controls
• molar teeth show 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
• 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
• 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
• by SEM enamel is severely dysplastic non-prismatic 'enamel' with a smooth glass-like appearance and no evidence of clear prismatic structure
• the upper and lower incisors exhibit roughened/pitted surfaces
• molar teeth show abrasion of the cusps
• shortened with irregular incisal edge
• mandible is enlarged, eroded and discolored, containing a large mass of soft tissue

skeleton
• 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
• molars are opaque and roughened, rather than smooth and opalescent as in wild-type controls
• molar teeth show 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
• 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
• 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
• by SEM enamel is severely dysplastic non-prismatic 'enamel' with a smooth glass-like appearance and no evidence of clear prismatic structure
• the upper and lower incisors exhibit roughened/pitted surfaces
• molar teeth show abrasion of the cusps
• shortened with irregular incisal edge
• mandible is enlarged, eroded and discolored, containing a large mass of soft tissue

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
• molars are opaque and roughened, rather than smooth and opalescent as in wild-type controls
• molar teeth show 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
• 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
• 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
• by SEM enamel is severely dysplastic non-prismatic 'enamel' with a smooth glass-like appearance and no evidence of clear prismatic structure
• the upper and lower incisors exhibit roughened/pitted surfaces
• molar teeth show abrasion of the cusps
• 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





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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory