Phenotypes associated with this allele

• Allele Symbol: Amelx^Rgsc888
• Allele Name: RIKEN Genomic Sciences Center (GSC), 888
• Allele ID: MGI:3807977
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Amelx^Rgsc888/Amelx^Rgsc888	involves: C57BL/6JJcl * DBA/2J	MGI:4438262
ht2	Amelx^Rgsc888/Amelx^+	involves: C57BL/6JJcl * DBA/2J	MGI:4438260
ht3	Amelx^Rgsc888/Amelx^+	involves: C57BL/6JJcl * DBA/2JJcl	MGI:3807979
ot4	Amelx^Rgsc888/Y	involves: C57BL/6JJcl * DBA/2J	MGI:4438261

Genotype
MGI:4438262

hm1

• Allelic Composition: Amelx^Rgsc888/Amelx^Rgsc888
• Genetic Background: involves: C57BL/6JJcl * DBA/2J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

craniofacial

abnormal enamel morphology ( J:157947 )

♀ • severely hypoplastic

♀ • large areas of enamel are missing

abnormal ameloblast morphology ( J:157947 )

♀ • 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

abnormal enamel morphology ( J:157947 )

♀ • severely hypoplastic

♀ • large areas of enamel are missing

abnormal ameloblast morphology ( J:157947 )

♀ • 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

abnormal enamel morphology ( J:157947 )

♀ • severely hypoplastic

♀ • large areas of enamel are missing

abnormal ameloblast morphology ( J:157947 )

♀ • 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: Amelx^Rgsc888/Amelx⁺
• Genetic Background: involves: C57BL/6JJcl * DBA/2J

craniofacial

abnormal incisor morphology ( J:157947 )

♀ • incisors display patchy regions of roughened, chalky white enamel

abnormal incisor color ( J:157947 )

♀ • patchy regions of chalky white enamel

short incisors ( J:157947 )

♀ • the upper and lower incisors are shortened

short lower incisors ( J:157947 )

♀

short upper incisors ( J:157947 )

♀

abnormal enamel morphology ( J:157947 )

♀ • incisors display patchy regions of roughened, chalky white enamel

abnormal ameloblast morphology ( J:157947 )

♀ • 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

abnormal enamel mineralization ( J:157947 )

♀ • decrease in enamel mineral content

♀ • no defect in dentine mineral levels

abnormal enamel rod pattern ( J:157947 )

♀ • by SEM the prismatic structure is less highly ordered with greater inter-prismatic spacing

reduced enamel thickness ( J:157947 )

♀

brittle teeth ( J:157947 )

♀ • shortened with irregular incisal edge

skeleton

abnormal incisor morphology ( J:157947 )

♀ • incisors display patchy regions of roughened, chalky white enamel

abnormal incisor color ( J:157947 )

♀ • patchy regions of chalky white enamel

short incisors ( J:157947 )

♀ • the upper and lower incisors are shortened

short lower incisors ( J:157947 )

♀

short upper incisors ( J:157947 )

♀

abnormal enamel morphology ( J:157947 )

♀ • incisors display patchy regions of roughened, chalky white enamel

abnormal ameloblast morphology ( J:157947 )

♀ • 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

abnormal enamel mineralization ( J:157947 )

♀ • decrease in enamel mineral content

♀ • no defect in dentine mineral levels

abnormal enamel rod pattern ( J:157947 )

♀ • by SEM the prismatic structure is less highly ordered with greater inter-prismatic spacing

reduced enamel thickness ( J:157947 )

♀

brittle teeth ( J:157947 )

♀ • shortened with irregular incisal edge

growth/size/body

abnormal incisor morphology ( J:157947 )

♀ • incisors display patchy regions of roughened, chalky white enamel

abnormal incisor color ( J:157947 )

♀ • patchy regions of chalky white enamel

short incisors ( J:157947 )

♀ • the upper and lower incisors are shortened

short lower incisors ( J:157947 )

♀

short upper incisors ( J:157947 )

♀

abnormal enamel morphology ( J:157947 )

♀ • incisors display patchy regions of roughened, chalky white enamel

abnormal ameloblast morphology ( J:157947 )

♀ • 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

abnormal enamel mineralization ( J:157947 )

♀ • decrease in enamel mineral content

♀ • no defect in dentine mineral levels

abnormal enamel rod pattern ( J:157947 )

♀ • by SEM the prismatic structure is less highly ordered with greater inter-prismatic spacing

reduced enamel thickness ( J:157947 )

♀

brittle teeth ( J:157947 )

♀ • 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: Amelx^Rgsc888/Amelx⁺
• Genetic Background: involves: C57BL/6JJcl * DBA/2JJcl

craniofacial

abnormal enamel morphology ( J:133634 )

♀ • rough tooth surface

growth/size/body

abnormal enamel morphology ( J:133634 )

♀ • rough tooth surface

skeleton

abnormal enamel morphology ( J:133634 )

♀ • rough tooth surface

Genotype
MGI:4438261

ot4

• Allelic Composition: Amelx^Rgsc888/Y
• Genetic Background: involves: C57BL/6JJcl * DBA/2J

craniofacial

abnormal incisor morphology ( J:157947 )

♂ • entire enamel surface is roughened opaque and chalky white

♂ • frequently have an irregular incisal edge

abnormal incisor color ( J:157947 )

♂ • opaque and chalky white enamel

short incisors ( J:157947 )

♂ • the upper and lower incisors are shortened

short lower incisors ( J:157947 )

♂

short upper incisors ( J:157947 )

♂

abnormal molar morphology ( J:157947 )

♂ • molars are opaque and roughened, rather than smooth and opalescent as in wild-type controls

abnormal molar cusp morphology ( J:157947 )

♂ • molar teeth show abrasion of the cusps

abnormal tooth development ( J:157947 )

♂ • at the ameloblast enamel interface the regular pattern of Tomes' process insertions is absent and instead there is a disorganized vesicular pattern

abnormal enamel morphology ( J:157947 )

♂ • 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

abnormal ameloblast morphology ( J:157947 )

♂ • 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

abnormal enamel mineralization ( 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

abnormal enamel rod pattern ( J:157947 )

♂ • by SEM enamel is severely dysplastic non-prismatic 'enamel' with a smooth glass-like appearance and no evidence of clear prismatic structure

enamel pits ( J:157947 )

♂ • the upper and lower incisors exhibit roughened/pitted surfaces

abnormal tooth wear ( J:157947 )

♂ • molar teeth show abrasion of the cusps

brittle teeth ( J:157947 )

♂ • shortened with irregular incisal edge

abnormal mandible morphology ( J:157947 )

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

large mandible ( J:157947 )

♂

skeleton

abnormal incisor morphology ( J:157947 )

♂ • entire enamel surface is roughened opaque and chalky white

♂ • frequently have an irregular incisal edge

abnormal incisor color ( J:157947 )

♂ • opaque and chalky white enamel

short incisors ( J:157947 )

♂ • the upper and lower incisors are shortened

short lower incisors ( J:157947 )

♂

short upper incisors ( J:157947 )

♂

abnormal molar morphology ( J:157947 )

♂ • molars are opaque and roughened, rather than smooth and opalescent as in wild-type controls

abnormal molar cusp morphology ( J:157947 )

♂ • molar teeth show abrasion of the cusps

abnormal tooth development ( J:157947 )

♂ • at the ameloblast enamel interface the regular pattern of Tomes' process insertions is absent and instead there is a disorganized vesicular pattern

abnormal enamel morphology ( J:157947 )

♂ • 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

abnormal ameloblast morphology ( J:157947 )

♂ • 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

abnormal enamel mineralization ( 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

abnormal enamel rod pattern ( J:157947 )

♂ • by SEM enamel is severely dysplastic non-prismatic 'enamel' with a smooth glass-like appearance and no evidence of clear prismatic structure

enamel pits ( J:157947 )

♂ • the upper and lower incisors exhibit roughened/pitted surfaces

abnormal tooth wear ( J:157947 )

♂ • molar teeth show abrasion of the cusps

brittle teeth ( J:157947 )

♂ • shortened with irregular incisal edge

abnormal mandible morphology ( J:157947 )

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

large mandible ( J:157947 )

♂

growth/size/body

abnormal incisor morphology ( J:157947 )

♂ • entire enamel surface is roughened opaque and chalky white

♂ • frequently have an irregular incisal edge

abnormal incisor color ( J:157947 )

♂ • opaque and chalky white enamel

short incisors ( J:157947 )

♂ • the upper and lower incisors are shortened

short lower incisors ( J:157947 )

♂

short upper incisors ( J:157947 )

♂

abnormal molar morphology ( J:157947 )

♂ • molars are opaque and roughened, rather than smooth and opalescent as in wild-type controls

abnormal molar cusp morphology ( J:157947 )

♂ • molar teeth show abrasion of the cusps

abnormal tooth development ( J:157947 )

♂ • at the ameloblast enamel interface the regular pattern of Tomes' process insertions is absent and instead there is a disorganized vesicular pattern

abnormal enamel morphology ( J:157947 )

♂ • 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

abnormal ameloblast morphology ( J:157947 )

♂ • 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

abnormal enamel mineralization ( 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

abnormal enamel rod pattern ( J:157947 )

♂ • by SEM enamel is severely dysplastic non-prismatic 'enamel' with a smooth glass-like appearance and no evidence of clear prismatic structure

enamel pits ( J:157947 )

♂ • the upper and lower incisors exhibit roughened/pitted surfaces

abnormal tooth wear ( J:157947 )

♂ • molar teeth show abrasion of the cusps

brittle teeth ( J:157947 )

♂ • 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