Phenotypes Associated with This Genotype

Genotype
MGI:3526411

• Allelic Composition: Ambn^tm1Nid/Ambn^tm1Nid
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

Defects in enamel formation of Ambn^tm1Nid/Ambn^tm1Nid mice

neoplasm

increased tumor incidence ( J:94844 )

• dental epithelium derived soft tissue tumors in the buccal vestibule of the maxilla were seen in 6 out of 32 mutants with the earliest occurrence at 26 weeks of age

craniofacial

abnormal jaw morphology ( J:94844 )

• the space between the tooth and alveolar bone is wider than normal and this space is invaded by calcified tissue

abnormal tooth morphology ( J:94844 )

abnormal incisor morphology ( J:94844 )

• at 3 weeks of age incisors appear chalky white with rounded tips

• incisor-alveolar bone space is wider

abnormal incisor color ( J:94844 )

• chalky white at 3 weeks of age

abnormal molar crown morphology ( J:94844 )

• the occlusal plane of the molar is flattened from attrition after eruption

abnormal ameloblast morphology ( J:94844 )

• at P3 ameloblasts begin to detach from the matrix layer and lose cell polarity

• at P7 ameloblast cell polarity is completely lost, proliferation is increased, and the cells accumulate to form a multilayered structure

absent enamel ( J:94844 )

abnormal tooth attrition ( J:94844 )

• the occlusal plane of the molar is flattened from attrition after eruption

skeleton

abnormal jaw morphology ( J:94844 )

• the space between the tooth and alveolar bone is wider than normal and this space is invaded by calcified tissue

abnormal tooth morphology ( J:94844 )

abnormal incisor morphology ( J:94844 )

• at 3 weeks of age incisors appear chalky white with rounded tips

• incisor-alveolar bone space is wider

abnormal incisor color ( J:94844 )

• chalky white at 3 weeks of age

abnormal molar crown morphology ( J:94844 )

• the occlusal plane of the molar is flattened from attrition after eruption

abnormal ameloblast morphology ( J:94844 )

• at P3 ameloblasts begin to detach from the matrix layer and lose cell polarity

• at P7 ameloblast cell polarity is completely lost, proliferation is increased, and the cells accumulate to form a multilayered structure

absent enamel ( J:94844 )

abnormal tooth attrition ( J:94844 )

• the occlusal plane of the molar is flattened from attrition after eruption

growth/size/body

abnormal jaw morphology ( J:94844 )

• the space between the tooth and alveolar bone is wider than normal and this space is invaded by calcified tissue

abnormal tooth morphology ( J:94844 )

abnormal incisor morphology ( J:94844 )

• at 3 weeks of age incisors appear chalky white with rounded tips

• incisor-alveolar bone space is wider

abnormal incisor color ( J:94844 )

• chalky white at 3 weeks of age

abnormal molar crown morphology ( J:94844 )

• the occlusal plane of the molar is flattened from attrition after eruption

abnormal ameloblast morphology ( J:94844 )

• at P3 ameloblasts begin to detach from the matrix layer and lose cell polarity

• at P7 ameloblast cell polarity is completely lost, proliferation is increased, and the cells accumulate to form a multilayered structure

absent enamel ( J:94844 )

abnormal tooth attrition ( J:94844 )

• the occlusal plane of the molar is flattened from attrition after eruption

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
amelogenesis imperfecta type 1F		DOID:0110065	OMIM:616270	J:94844