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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Enamtm1.1Jcch
targeted mutation 1.1, Jan C C Hu
MGI:3796583
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Enamtm1.1Jcch/Enamtm1.1Jcch C57BL/6-Enamtm1.1Jcch MGI:3808005
hm2
Enamtm1.1Jcch/Enamtm1.1Jcch involves: C57BL/6 MGI:5708531
ht3
Enamtm1.1Jcch/Enam+ C57BL/6-Enamtm1.1Jcch MGI:3808006
ht4
Enamtm1.1Jcch/Enam+ involves: C57BL/6 MGI:5708536


Genotype
MGI:3808005
hm1
Allelic
Composition
Enamtm1.1Jcch/Enamtm1.1Jcch
Genetic
Background
C57BL/6-Enamtm1.1Jcch
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Enamtm1.1Jcch mutation (1 available); any Enam mutation (71 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Tooth abnormalities in Enamtm1.1Jcch/Enam+ and Enamtm1.1Jcch/Enamtm1.1Jcch mice at 7 weeks of age

craniofacial
• some mice exhibit periodontal problems around the mandibular molars including bone loss, widened interdental spaces and bifurcated openings in relation to the roots of the first and sometimes second molar unlike in wild-type mice
• incisors are opaque, exhibit severe dentin abrasion and are coated in a thin layer of calcified material unlike in wild-type mice
• molars are coated in a thin layer of calcified material and show overt occlusal wear unlike in wild-type mice
• some molar crowns exhibit an accumulation of calcified material
• mineralized crowns are thinner and less dense than in wild-type mice
• beneath the cell, enamel surfaces are lumpy laterally more often than mesially unlike in wild-type mice
• mandibular crown mineralization at 2 weeks is reduced compared to in wild-type and heterozygous mice
• mice lack true enamel
• incisors exhibit severe dentin abrasion
• molars show overt occlusal wear unlike in wild-type mice

skeleton
• incisors are opaque, exhibit severe dentin abrasion and are coated in a thin layer of calcified material unlike in wild-type mice
• molars are coated in a thin layer of calcified material and show overt occlusal wear unlike in wild-type mice
• some molar crowns exhibit an accumulation of calcified material
• mineralized crowns are thinner and less dense than in wild-type mice
• beneath the cell, enamel surfaces are lumpy laterally more often than mesially unlike in wild-type mice
• mandibular crown mineralization at 2 weeks is reduced compared to in wild-type and heterozygous mice
• mice lack true enamel
• incisors exhibit severe dentin abrasion
• molars show overt occlusal wear unlike in wild-type mice

homeostasis/metabolism
N
• no abnormalities are observed in blood levels of calcium, phosphate, glucose, or alkaline phosphatase

growth/size/body
• some mice exhibit periodontal problems around the mandibular molars including bone loss, widened interdental spaces and bifurcated openings in relation to the roots of the first and sometimes second molar unlike in wild-type mice
• incisors are opaque, exhibit severe dentin abrasion and are coated in a thin layer of calcified material unlike in wild-type mice
• molars are coated in a thin layer of calcified material and show overt occlusal wear unlike in wild-type mice
• some molar crowns exhibit an accumulation of calcified material
• mineralized crowns are thinner and less dense than in wild-type mice
• beneath the cell, enamel surfaces are lumpy laterally more often than mesially unlike in wild-type mice
• mandibular crown mineralization at 2 weeks is reduced compared to in wild-type and heterozygous mice
• mice lack true enamel
• incisors exhibit severe dentin abrasion
• molars show overt occlusal wear unlike in wild-type mice




Genotype
MGI:5708531
hm2
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 (71 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
• mandibular incisors show cyst formation
• 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




Genotype
MGI:3808006
ht3
Allelic
Composition
Enamtm1.1Jcch/Enam+
Genetic
Background
C57BL/6-Enamtm1.1Jcch
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Enamtm1.1Jcch mutation (1 available); any Enam mutation (71 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Tooth abnormalities in Enamtm1.1Jcch/Enam+ and Enamtm1.1Jcch/Enamtm1.1Jcch mice at 7 weeks of age

craniofacial
• abnormal wear on incisal tips results in blunting of the incisor
• mandibular incisors are chalky white and maxillary incisors range from chalky white to near normal
• mandibular incisors exhibit a loss of translucency and pigmentation as well as chalky white enamel covering unlike in wild-type mice
• maxillary incisors range from chalky white to near normal
• some maxillary incisors are less yellow-brown than in wild-type mice
• mandibular incisor enamel near the functional part of the incisal edge is missing
• some maxillary incisors are less yellow-brown than in wild-type mice and exhibit a non-uniform wear pattern
• occlusal wear is pronounced on the molars as indicated by flattened and rounded molars at the cusp tips
• mandibular incisor enamel is discolored and wears rapidly compared to in wild-type mice
• mandibular incisors are chalky white and maxillary incisors range from chalky white to near normal
• mandibular incisor enamel near the functional part of the incisal edge is missing and enamel abrasion is evident on molar cusps
• the mineral to protein ratio in enamel is reduced compared to in wild-type mice
• mandibular crown mineralization at 2 weeks is reduced compared to in wild-type mice
• enamel abrasion is evident on molar cusps
• abnormal wear on incisal tips results in blunting of the incisor
• occlusal wear is pronounced on the molars as indicated by flattened and rounded molars at the cusp tips

skeleton
• abnormal wear on incisal tips results in blunting of the incisor
• mandibular incisors are chalky white and maxillary incisors range from chalky white to near normal
• mandibular incisors exhibit a loss of translucency and pigmentation as well as chalky white enamel covering unlike in wild-type mice
• maxillary incisors range from chalky white to near normal
• some maxillary incisors are less yellow-brown than in wild-type mice
• mandibular incisor enamel near the functional part of the incisal edge is missing
• some maxillary incisors are less yellow-brown than in wild-type mice and exhibit a non-uniform wear pattern
• occlusal wear is pronounced on the molars as indicated by flattened and rounded molars at the cusp tips
• mandibular incisor enamel is discolored and wears rapidly compared to in wild-type mice
• mandibular incisors are chalky white and maxillary incisors range from chalky white to near normal
• mandibular incisor enamel near the functional part of the incisal edge is missing and enamel abrasion is evident on molar cusps
• the mineral to protein ratio in enamel is reduced compared to in wild-type mice
• mandibular crown mineralization at 2 weeks is reduced compared to in wild-type mice
• enamel abrasion is evident on molar cusps
• abnormal wear on incisal tips results in blunting of the incisor
• occlusal wear is pronounced on the molars as indicated by flattened and rounded molars at the cusp tips

homeostasis/metabolism
N
• no abnormalities are observed in blood levels of calcium, phosphate, glucose, or alkaline phosphatase

growth/size/body
• abnormal wear on incisal tips results in blunting of the incisor
• mandibular incisors are chalky white and maxillary incisors range from chalky white to near normal
• mandibular incisors exhibit a loss of translucency and pigmentation as well as chalky white enamel covering unlike in wild-type mice
• maxillary incisors range from chalky white to near normal
• some maxillary incisors are less yellow-brown than in wild-type mice
• mandibular incisor enamel near the functional part of the incisal edge is missing
• some maxillary incisors are less yellow-brown than in wild-type mice and exhibit a non-uniform wear pattern
• occlusal wear is pronounced on the molars as indicated by flattened and rounded molars at the cusp tips
• mandibular incisor enamel is discolored and wears rapidly compared to in wild-type mice
• mandibular incisors are chalky white and maxillary incisors range from chalky white to near normal
• mandibular incisor enamel near the functional part of the incisal edge is missing and enamel abrasion is evident on molar cusps
• the mineral to protein ratio in enamel is reduced compared to in wild-type mice
• mandibular crown mineralization at 2 weeks is reduced compared to in wild-type mice
• enamel abrasion is evident on molar cusps
• abnormal wear on incisal tips results in blunting of the incisor
• occlusal wear is pronounced on the molars as indicated by flattened and rounded molars at the cusp tips




Genotype
MGI:5708536
ht4
Allelic
Composition
Enamtm1.1Jcch/Enam+
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 (71 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• some irregularity of the ameloblast cell layers, specifically homogeneity and continuity, among molars
• mandibular incisors show disturbed ameloblasts resulting in cyst formation within the enamel organ beginning in late secretory stage
• organized rods are present in incisors but they are spaced further apart

skeleton
• some irregularity of the ameloblast cell layers, specifically homogeneity and continuity, among molars
• mandibular incisors show disturbed ameloblasts resulting in cyst formation within the enamel organ beginning in late secretory stage
• organized rods are present in incisors but they are spaced further apart

growth/size/body
• some irregularity of the ameloblast cell layers, specifically homogeneity and continuity, among molars
• mandibular incisors show disturbed ameloblasts resulting in cyst formation within the enamel organ beginning in late secretory stage
• organized rods are present in incisors but they are spaced further apart

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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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory