Phenotypes Associated with This Genotype

Genotype
MGI:4438260

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

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

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