Phenotypes Associated with This Genotype

Genotype
MGI:4438262

• 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