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Phenotypes Associated with This Genotype
Genotype
MGI:5708531
Allelic
Composition
Enamtm1.1Jcch/Enamtm1.1Jcch
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Enamtm1.1Jcch mutation (1 available); any Enam mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• 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
• maxillary and mandibular incisors show cyst formation
• 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
• the enamel organ is highly disorganized and there are no organized crystals in the enamel space of incisors
• abnormal mineral mixed with amelogenins are present extracellularly
• 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
• 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
• ameloblasts lack a Tomes' process
• unevenly thin enamel layer absent of decussating rods in incisors
• mice lack a true enamel and instead form a thin, highly irregular mineral crust
• molars fail to achieve normal enamel thickness at P14
• mandibular incisors show cyst formation
• maxillary incisors show cyst formation

skeleton
• 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
• maxillary and mandibular incisors show cyst formation
• 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
• the enamel organ is highly disorganized and there are no organized crystals in the enamel space of incisors
• abnormal mineral mixed with amelogenins are present extracellularly
• 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
• 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
• ameloblasts lack a Tomes' process
• unevenly thin enamel layer absent of decussating rods in incisors
• mice lack a true enamel and instead form a thin, highly irregular mineral crust
• molars fail to achieve normal enamel thickness at P14
• mandibular incisors show cyst formation
• maxillary incisors show cyst formation

growth/size/body
• 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
• maxillary and mandibular incisors show cyst formation
• 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
• the enamel organ is highly disorganized and there are no organized crystals in the enamel space of incisors
• abnormal mineral mixed with amelogenins are present extracellularly
• 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
• 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
• ameloblasts lack a Tomes' process
• unevenly thin enamel layer absent of decussating rods in incisors
• mice lack a true enamel and instead form a thin, highly irregular mineral crust
• molars fail to achieve normal enamel thickness at P14

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


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/13/2018
MGI 6.13
The Jackson Laboratory