Phenotypes Associated with This Genotype

Genotype
MGI:2177295

• Allelic Composition: Amelx^tm1Kul/Amelx^tm1Kul
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

Enamel hypoplasia in Amelx^tm1Kul/Amelx^tm1Kul incisors

craniofacial

abnormal tooth morphology ( J:71126 )

♀ • teeth show a chalky-white discoloration as early as 2 weeks of age

abnormal enamel rod pattern ( J:71126 )

♀ • absence of prism pattern of organized mineral crystals in enamel

reduced enamel thickness ( J:71126 )

♀ • mandibular molars show an enamel thickness with less than 10% of normal enamel

brittle teeth ( J:71126 )

♀ • tips of incisors and molars are broken

growth/size/body

abnormal tooth morphology ( J:71126 )

♀ • teeth show a chalky-white discoloration as early as 2 weeks of age

abnormal enamel rod pattern ( J:71126 )

♀ • absence of prism pattern of organized mineral crystals in enamel

reduced enamel thickness ( J:71126 )

♀ • mandibular molars show an enamel thickness with less than 10% of normal enamel

brittle teeth ( J:71126 )

♀ • tips of incisors and molars are broken

skeleton

abnormal tooth morphology ( J:71126 )

♀ • teeth show a chalky-white discoloration as early as 2 weeks of age

abnormal enamel rod pattern ( J:71126 )

♀ • absence of prism pattern of organized mineral crystals in enamel

reduced enamel thickness ( J:71126 )

♀ • mandibular molars show an enamel thickness with less than 10% of normal enamel

brittle teeth ( J:71126 )

♀ • tips of incisors and molars are broken

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
amelogenesis imperfecta type 1E		DOID:0110058	OMIM:301200	J:71126