Phenotypes Associated with This Genotype

Genotype
MGI:5708531

• Allelic Composition: Enam^tm1.1Jcch/Enam^tm1.1Jcch
• Genetic Background: involves: C57BL/6

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

craniofacial

abnormal tooth morphology ( J:223123 )

• tooth surfaces are rough and highly irregular

• amelogenin is produced by ameloblasts but enamelin is absent in all P5 and P14 mutants, and it pools in the enamel space as well as inside and between ameloblasts

abnormal incisor morphology ( J:223123 )

• maxillary and mandibular incisors show cyst formation

abnormal molar morphology ( J:223123 )

• abnormal ameloblast aggregations and cyst-like bulges, containing amelogenin are seen in molars

• molars show a scalloped zone of irregular, mineralized tissue at the dentinoenamel junction where layered mineral of different textures is apparent

abnormal enamel organ morphology ( J:223123 )

• the enamel organ is highly disorganized and there are no organized crystals in the enamel space of incisors

abnormal tooth mineralization ( J:223123 )

• abnormal mineral mixed with amelogenins are present extracellularly

abnormal enamel morphology ( J:223123 )

• the enamel space is irregularly thin except for a significant bulge on the mesial cuspal slope

• abnormal accumulations of enamel matrix

• mineral crystals in the enamel rods are more distinct

• blunting of the incisal edge and cuspal tips of molars indicate altered enamel hardness

• however, no differences in dentin structure are seen

abnormal ameloblast morphology ( J:223123 )

• ameloblasts completely lose their polarity at P7, aggregate abnormally, and are unable to maintain an even enamel space

• ameloblasts lack a Tomes process and tall columnar shape

• ameloblasts show premature and excessive apoptotic activities as early as P5 in molars

• enlarged rough endoplasmic reticulum is seen in ameloblasts

absent Tomes' process ( J:223123 )

• ameloblasts lack a Tomes' process

abnormal enamel rod pattern ( J:223123 )

• unevenly thin enamel layer absent of decussating rods in incisors

absent enamel ( J:223123 )

• mice lack a true enamel and instead form a thin, highly irregular mineral crust

reduced enamel thickness ( J:223123 )

• molars fail to achieve normal enamel thickness at P14

mandibular cyst ( J:223123 )

• mandibular incisors show cyst formation

maxillary cyst ( J:223123 )

• maxillary incisors show cyst formation

skeleton

abnormal tooth morphology ( J:223123 )

• tooth surfaces are rough and highly irregular

• amelogenin is produced by ameloblasts but enamelin is absent in all P5 and P14 mutants, and it pools in the enamel space as well as inside and between ameloblasts

abnormal incisor morphology ( J:223123 )

• maxillary and mandibular incisors show cyst formation

abnormal molar morphology ( J:223123 )

• abnormal ameloblast aggregations and cyst-like bulges, containing amelogenin are seen in molars

• molars show a scalloped zone of irregular, mineralized tissue at the dentinoenamel junction where layered mineral of different textures is apparent

abnormal enamel organ morphology ( J:223123 )

• the enamel organ is highly disorganized and there are no organized crystals in the enamel space of incisors

abnormal tooth mineralization ( J:223123 )

• abnormal mineral mixed with amelogenins are present extracellularly

abnormal enamel morphology ( J:223123 )

• the enamel space is irregularly thin except for a significant bulge on the mesial cuspal slope

• abnormal accumulations of enamel matrix

• mineral crystals in the enamel rods are more distinct

• blunting of the incisal edge and cuspal tips of molars indicate altered enamel hardness

• however, no differences in dentin structure are seen

abnormal ameloblast morphology ( J:223123 )

• ameloblasts completely lose their polarity at P7, aggregate abnormally, and are unable to maintain an even enamel space

• ameloblasts lack a Tomes process and tall columnar shape

• ameloblasts show premature and excessive apoptotic activities as early as P5 in molars

• enlarged rough endoplasmic reticulum is seen in ameloblasts

absent Tomes' process ( J:223123 )

• ameloblasts lack a Tomes' process

abnormal enamel rod pattern ( J:223123 )

• unevenly thin enamel layer absent of decussating rods in incisors

absent enamel ( J:223123 )

• mice lack a true enamel and instead form a thin, highly irregular mineral crust

reduced enamel thickness ( J:223123 )

• molars fail to achieve normal enamel thickness at P14

mandibular cyst ( J:223123 )

• mandibular incisors show cyst formation

maxillary cyst ( J:223123 )

• maxillary incisors show cyst formation

growth/size/body

abnormal tooth morphology ( J:223123 )

• tooth surfaces are rough and highly irregular

• amelogenin is produced by ameloblasts but enamelin is absent in all P5 and P14 mutants, and it pools in the enamel space as well as inside and between ameloblasts

abnormal incisor morphology ( J:223123 )

• maxillary and mandibular incisors show cyst formation

abnormal molar morphology ( J:223123 )

• abnormal ameloblast aggregations and cyst-like bulges, containing amelogenin are seen in molars

• molars show a scalloped zone of irregular, mineralized tissue at the dentinoenamel junction where layered mineral of different textures is apparent

abnormal enamel organ morphology ( J:223123 )

• the enamel organ is highly disorganized and there are no organized crystals in the enamel space of incisors

abnormal tooth mineralization ( J:223123 )

• abnormal mineral mixed with amelogenins are present extracellularly

abnormal enamel morphology ( J:223123 )

• the enamel space is irregularly thin except for a significant bulge on the mesial cuspal slope

• abnormal accumulations of enamel matrix

• mineral crystals in the enamel rods are more distinct

• blunting of the incisal edge and cuspal tips of molars indicate altered enamel hardness

• however, no differences in dentin structure are seen

abnormal ameloblast morphology ( J:223123 )

• ameloblasts completely lose their polarity at P7, aggregate abnormally, and are unable to maintain an even enamel space

• ameloblasts lack a Tomes process and tall columnar shape

• ameloblasts show premature and excessive apoptotic activities as early as P5 in molars

• enlarged rough endoplasmic reticulum is seen in ameloblasts

absent Tomes' process ( J:223123 )

• ameloblasts lack a Tomes' process

abnormal enamel rod pattern ( J:223123 )

• unevenly thin enamel layer absent of decussating rods in incisors

absent enamel ( J:223123 )

• mice lack a true enamel and instead form a thin, highly irregular mineral crust

reduced enamel thickness ( J:223123 )

• molars fail to achieve normal enamel thickness at P14

mandibular cyst ( J:223123 )

• mandibular incisors show cyst formation

maxillary cyst ( J:223123 )

• maxillary incisors show cyst formation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
amelogenesis imperfecta type 1B		DOID:0110052	OMIM:104500	J:223123