All Phenotypes Enam<tm1.1Jcch> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Enam^tm1.1Jcch/Enam^tm1.1Jcch	C57BL/6-Enam^tm1.1Jcch	MGI:3808005
hm2	Enam^tm1.1Jcch/Enam^tm1.1Jcch	involves: C57BL/6	MGI:5708531
ht3	Enam^tm1.1Jcch/Enam⁺	C57BL/6-Enam^tm1.1Jcch	MGI:3808006
ht4	Enam^tm1.1Jcch/Enam⁺	involves: C57BL/6	MGI:5708536

Allelic Composition	Enam^tm1.1Jcch/Enam^tm1.1Jcch
Genetic Background	C57BL/6-Enam^tm1.1Jcch

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Enam^tm1.1Jcch mutation (1 available); any Enam mutation (71 available)

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

Tooth abnormalities in Enam^tm1.1Jcch/Enam⁺ and Enam^tm1.1Jcch/Enam^tm1.1Jcch mice at 7 weeks of age

craniofacial

abnormal mouth morphology ( J:136524 )

• 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

abnormal incisor morphology ( J:136524 )

• incisors are opaque, exhibit severe dentin abrasion and are coated in a thin layer of calcified material unlike in wild-type mice

abnormal molar morphology ( J:136524 )

• molars are coated in a thin layer of calcified material and show overt occlusal wear unlike in wild-type mice

abnormal molar crown morphology ( J:136524 )

• some molar crowns exhibit an accumulation of calcified material

• mineralized crowns are thinner and less dense than in wild-type mice

delayed tooth eruption ( J:136524 )

• minor

abnormal enamel morphology ( J:136524 )

• beneath the cell, enamel surfaces are lumpy laterally more often than mesially unlike in wild-type mice

abnormal enamel mineralization ( J:136524 )

• mandibular crown mineralization at 2 weeks is reduced compared to in wild-type and heterozygous mice

absent enamel ( J:136524 )

• mice lack true enamel

abnormal tooth wear ( J:136524 )

• incisors exhibit severe dentin abrasion

abnormal tooth attrition ( J:136524 )

• molars show overt occlusal wear unlike in wild-type mice

skeleton

abnormal incisor morphology ( J:136524 )

• incisors are opaque, exhibit severe dentin abrasion and are coated in a thin layer of calcified material unlike in wild-type mice

abnormal molar morphology ( J:136524 )

• molars are coated in a thin layer of calcified material and show overt occlusal wear unlike in wild-type mice

abnormal molar crown morphology ( J:136524 )

• some molar crowns exhibit an accumulation of calcified material

• mineralized crowns are thinner and less dense than in wild-type mice

delayed tooth eruption ( J:136524 )

• minor

abnormal enamel morphology ( J:136524 )

• beneath the cell, enamel surfaces are lumpy laterally more often than mesially unlike in wild-type mice

abnormal enamel mineralization ( J:136524 )

• mandibular crown mineralization at 2 weeks is reduced compared to in wild-type and heterozygous mice

absent enamel ( J:136524 )

• mice lack true enamel

abnormal tooth wear ( J:136524 )

• incisors exhibit severe dentin abrasion

abnormal tooth attrition ( J:136524 )

• molars show overt occlusal wear unlike in wild-type mice

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:136524 )

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

growth/size/body

abnormal mouth morphology ( J:136524 )

abnormal incisor morphology ( J:136524 )

• incisors are opaque, exhibit severe dentin abrasion and are coated in a thin layer of calcified material unlike in wild-type mice

abnormal molar morphology ( J:136524 )

• molars are coated in a thin layer of calcified material and show overt occlusal wear unlike in wild-type mice

abnormal molar crown morphology ( J:136524 )

• some molar crowns exhibit an accumulation of calcified material

• mineralized crowns are thinner and less dense than in wild-type mice

delayed tooth eruption ( J:136524 )

• minor

abnormal enamel morphology ( J:136524 )

• beneath the cell, enamel surfaces are lumpy laterally more often than mesially unlike in wild-type mice

abnormal enamel mineralization ( J:136524 )

• mandibular crown mineralization at 2 weeks is reduced compared to in wild-type and heterozygous mice

absent enamel ( J:136524 )

• mice lack true enamel

abnormal tooth wear ( J:136524 )

• incisors exhibit severe dentin abrasion

abnormal tooth attrition ( J:136524 )

• molars show overt occlusal wear unlike in wild-type mice

♀	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

Allelic Composition	Enam^tm1.1Jcch/Enam⁺
Genetic Background	C57BL/6-Enam^tm1.1Jcch

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Enam^tm1.1Jcch mutation (1 available); any Enam mutation (71 available)

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

Tooth abnormalities in Enam^tm1.1Jcch/Enam⁺ and Enam^tm1.1Jcch/Enam^tm1.1Jcch mice at 7 weeks of age

craniofacial

abnormal incisor morphology ( J:136524 )

• abnormal wear on incisal tips results in blunting of the incisor

abnormal incisor color ( J:136524 )

• mandibular incisors are chalky white and maxillary incisors range from chalky white to near normal

abnormal lower incisor color ( J:136524 )

• mandibular incisors exhibit a loss of translucency and pigmentation as well as chalky white enamel covering unlike in wild-type mice

abnormal upper incisor color ( J:136524 )

• maxillary incisors range from chalky white to near normal

• some maxillary incisors are less yellow-brown than in wild-type mice

abnormal lower incisor morphology ( J:136524 )

• mandibular incisor enamel near the functional part of the incisal edge is missing

abnormal upper incisor morphology ( J:136524 )

• some maxillary incisors are less yellow-brown than in wild-type mice and exhibit a non-uniform wear pattern

abnormal molar cusp morphology ( J:136524 )

• occlusal wear is pronounced on the molars as indicated by flattened and rounded molars at the cusp tips

premature tooth eruption ( J:136524 )

• minor

abnormal enamel morphology ( J:136524 )

• 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

abnormal enamel mineralization ( J:136524 )

• mandibular crown mineralization at 2 weeks is reduced compared to in wild-type mice

abnormal tooth wear ( J:136524 )

• enamel abrasion is evident on molar cusps

abnormal tooth attrition ( J:136524 )

• 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 incisor morphology ( J:136524 )

• abnormal wear on incisal tips results in blunting of the incisor

abnormal incisor color ( J:136524 )

• mandibular incisors are chalky white and maxillary incisors range from chalky white to near normal

abnormal lower incisor color ( J:136524 )

• mandibular incisors exhibit a loss of translucency and pigmentation as well as chalky white enamel covering unlike in wild-type mice

abnormal upper incisor color ( J:136524 )

• maxillary incisors range from chalky white to near normal

• some maxillary incisors are less yellow-brown than in wild-type mice

abnormal lower incisor morphology ( J:136524 )

• mandibular incisor enamel near the functional part of the incisal edge is missing

abnormal upper incisor morphology ( J:136524 )

• some maxillary incisors are less yellow-brown than in wild-type mice and exhibit a non-uniform wear pattern

abnormal molar cusp morphology ( J:136524 )

• occlusal wear is pronounced on the molars as indicated by flattened and rounded molars at the cusp tips

premature tooth eruption ( J:136524 )

• minor

abnormal enamel morphology ( J:136524 )

• 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

abnormal enamel mineralization ( J:136524 )

• mandibular crown mineralization at 2 weeks is reduced compared to in wild-type mice

abnormal tooth wear ( J:136524 )

• enamel abrasion is evident on molar cusps

abnormal tooth attrition ( J:136524 )

• 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

homeostasis/metabolism phenotype ( J:136524 )

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

growth/size/body

abnormal incisor morphology ( J:136524 )

• abnormal wear on incisal tips results in blunting of the incisor

abnormal incisor color ( J:136524 )

• mandibular incisors are chalky white and maxillary incisors range from chalky white to near normal

abnormal lower incisor color ( J:136524 )

• mandibular incisors exhibit a loss of translucency and pigmentation as well as chalky white enamel covering unlike in wild-type mice

abnormal upper incisor color ( J:136524 )

• maxillary incisors range from chalky white to near normal

• some maxillary incisors are less yellow-brown than in wild-type mice

abnormal lower incisor morphology ( J:136524 )

• mandibular incisor enamel near the functional part of the incisal edge is missing

abnormal upper incisor morphology ( J:136524 )

• some maxillary incisors are less yellow-brown than in wild-type mice and exhibit a non-uniform wear pattern

abnormal molar cusp morphology ( J:136524 )

• occlusal wear is pronounced on the molars as indicated by flattened and rounded molars at the cusp tips

premature tooth eruption ( J:136524 )

• minor

abnormal enamel morphology ( J:136524 )

• 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

abnormal enamel mineralization ( J:136524 )

• mandibular crown mineralization at 2 weeks is reduced compared to in wild-type mice

abnormal tooth wear ( J:136524 )

• enamel abrasion is evident on molar cusps

abnormal tooth attrition ( J:136524 )

• 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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Enam^tm1.1Jcch mutation (1 available); any Enam mutation (71 available)

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

craniofacial

abnormal tooth morphology ( J:223123 )

• some irregularity of the ameloblast cell layers, specifically homogeneity and continuity, among molars

abnormal lower incisor morphology ( J:223123 )

• mandibular incisors show disturbed ameloblasts resulting in cyst formation within the enamel organ beginning in late secretory stage

abnormal enamel rod pattern ( J:223123 )

• organized rods are present in incisors but they are spaced further apart

reduced enamel thickness ( J:223123 )

skeleton

abnormal tooth morphology ( J:223123 )

• some irregularity of the ameloblast cell layers, specifically homogeneity and continuity, among molars

abnormal lower incisor morphology ( J:223123 )

• mandibular incisors show disturbed ameloblasts resulting in cyst formation within the enamel organ beginning in late secretory stage

abnormal enamel rod pattern ( J:223123 )

• organized rods are present in incisors but they are spaced further apart

reduced enamel thickness ( J:223123 )

growth/size/body

abnormal tooth morphology ( J:223123 )

• some irregularity of the ameloblast cell layers, specifically homogeneity and continuity, among molars

abnormal lower incisor morphology ( J:223123 )

• mandibular incisors show disturbed ameloblasts resulting in cyst formation within the enamel organ beginning in late secretory stage

abnormal enamel rod pattern ( J:223123 )

• organized rods are present in incisors but they are spaced further apart

reduced enamel thickness ( J:223123 )

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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 10/29/2024 MGI 6.24