Phenotypes associated with this allele

• Allele Symbol: Enam⁺
• Allele Name: wild type
• Allele ID: MGI:2437506
• Summary: 8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Enam^abte/Enam^+	C3HeB/FeJ-Enam^abte	MGI:5694091
ht2	Enam^Abte2/Enam^+	C3HeB/FeJ-Enam^Abte2	MGI:5694094
ht3	Enam^tm1.1Jcch/Enam^+	C57BL/6-Enam^tm1.1Jcch	MGI:3808006
ht4	Enam^abte/Enam^+	involves: C3H * C3HeB/FeJ	MGI:3513250
ht5	Enam^tm1.1Jcch/Enam^+	involves: C57BL/6	MGI:5708536
ht6	Enam^Rgsc521/Enam^+	involves: C57BL/6JJcl * DBA/2J	MGI:3574668
ht7	Enam^Rgsc514/Enam^+	involves: C57BL/6JJcl * DBA/2J	MGI:3574666
ht8	Enam^Rgsc395/Enam^+	involves: C57BL/6JJcl * DBA/2J	MGI:3574665

Genotype
MGI:5694091

ht1

• Allelic Composition: Enam^abte/Enam⁺
• Genetic Background: C3HeB/FeJ-Enam^abte

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

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:220423 )

N • mice exhibit normal body temperature and efficiency of energy extraction from food

decreased circulating cholesterol level ( J:220423 )

decreased circulating transferrin level ( J:220423 )

• below the level of control in female mice and mildly decreased in male mice

abnormal enzyme/coenzyme activity ( J:220423 )

• decreased alpha-amylase activity

increased alkaline phosphatase activity ( J:220423 )

skeleton

decreased bone mineral content ( J:220423 )

decreased bone mineral density ( J:220423 )

abnormal compact bone morphology ( J:220423 )

• reduced cortical content

decreased compact bone area ( J:220423 )

abnormal trabecular bone morphology ( J:220423 )

• reduced trabecular density

• increased trabecular bone area in female mice

growth/size/body

decreased body mass index ( J:220423 )

increased lean body mass ( J:220423 )

decreased body weight ( J:220423 )

decreased body length ( J:220423 )

hematopoietic system

decreased erythrocyte cell number ( J:220423 )

decreased hematocrit ( J:220423 )

decreased hemoglobin concentration distribution width ( J:220423 )

increased mean corpuscular volume ( J:220423 )

• slightly only in male mice

digestive/alimentary system

abnormal digestion ( J:220423 )

• mice produce less feces per gram consumed food

adipose tissue

decreased total body fat amount ( J:220423 )

behavior/neurological

behavior/neurological phenotype ( J:220423 )

N • mice exhibit normal food consumption

Genotype
MGI:5694094

ht2

• Allelic Composition: Enam^Abte2/Enam⁺
• Genetic Background: C3HeB/FeJ-Enam^Abte2

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:220423 )

N • mice exhibit normal body temperature and efficiency of energy extraction from food

decreased circulating cholesterol level ( J:220423 )

decreased circulating triglyceride level ( J:220423 )

decreased circulating transferrin level ( J:220423 )

♀ • below the level of control in female mice

♀ • however, male mice exhibit normal levels

abnormal enzyme/coenzyme activity ( J:220423 )

• decreased alpha-amylase activity

• slightly decrease in lipase activity in female mice

• however, male mice exhibit normal lipase activity levels

increased alkaline phosphatase activity ( J:220423 )

growth/size/body

abnormal incisor color ( J:220423 )

• whitish

decreased body mass index ( J:220423 )

increased lean body mass ( J:220423 )

decreased body weight ( J:220423 )

decreased body length ( J:220423 )

♀ • in female mice

skeleton

abnormal incisor color ( J:220423 )

• whitish

decreased bone mineral content ( J:220423 )

decreased bone mineral density ( J:220423 )

hematopoietic system

hematopoietic system phenotype ( J:220423 )

N • mice exhibit normal hematological parameters

adipose tissue

decreased total body fat amount ( J:220423 )

behavior/neurological

behavior/neurological phenotype ( J:220423 )

N • mice exhibit normal food consumption

craniofacial

abnormal incisor color ( J:220423 )

• whitish

Genotype
MGI:3808006

ht3

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

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

Genotype
MGI:3513250

ht4

• Allelic Composition: Enam^abte/Enam⁺
• Genetic Background: involves: C3H * C3HeB/FeJ

craniofacial

abnormal upper incisor color ( J:92107 )

• the upper incisors are lighter colored

reduced enamel thickness ( J:92107 )

• cracked enamel that is reduced in width by about 50% is seen on the incisors and molars

skeleton

abnormal upper incisor color ( J:92107 )

• the upper incisors are lighter colored

reduced enamel thickness ( J:92107 )

• cracked enamel that is reduced in width by about 50% is seen on the incisors and molars

growth/size/body

abnormal upper incisor color ( J:92107 )

• the upper incisors are lighter colored

reduced enamel thickness ( J:92107 )

• cracked enamel that is reduced in width by about 50% is seen on the incisors and molars

Genotype
MGI:5708536

ht5

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

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

Genotype
MGI:3574668

ht6

• Allelic Composition: Enam^Rgsc521/Enam⁺
• Genetic Background: involves: C57BL/6JJcl * DBA/2J

craniofacial

abnormal tooth morphology ( J:96349 )

• a gap is seen between the enamel and the dentin core

abnormal incisor morphology ( J:96349 )

• the incisor occlusion surface shows abnormal wear

abnormal enamel morphology ( J:96349 )

• the enamel surface appears slightly rougher and abnormal wear at the incisor occlusion surface suggests the enamel is softer, but enamel thickness is normal

growth/size/body

abnormal tooth morphology ( J:96349 )

• a gap is seen between the enamel and the dentin core

abnormal incisor morphology ( J:96349 )

• the incisor occlusion surface shows abnormal wear

abnormal enamel morphology ( J:96349 )

• the enamel surface appears slightly rougher and abnormal wear at the incisor occlusion surface suggests the enamel is softer, but enamel thickness is normal

skeleton

abnormal tooth morphology ( J:96349 )

• a gap is seen between the enamel and the dentin core

abnormal incisor morphology ( J:96349 )

• the incisor occlusion surface shows abnormal wear

abnormal enamel morphology ( J:96349 )

• the enamel surface appears slightly rougher and abnormal wear at the incisor occlusion surface suggests the enamel is softer, but enamel thickness is normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
amelogenesis imperfecta type 1B		DOID:0110052	OMIM:104500	J:96349

Genotype
MGI:3574666

ht7

• Allelic Composition: Enam^Rgsc514/Enam⁺
• Genetic Background: involves: C57BL/6JJcl * DBA/2J

craniofacial

abnormal tooth morphology ( J:96349 )

• a gap is seen between the enamel and the dentin core

abnormal enamel morphology ( J:96349 )

• enamel surface of the molars appears rough with microscopic cracks and delamination; however, the enamel is of normal thickness

• similar but more prominent enamel defects are seen on the incisors

growth/size/body

abnormal tooth morphology ( J:96349 )

• a gap is seen between the enamel and the dentin core

abnormal enamel morphology ( J:96349 )

• enamel surface of the molars appears rough with microscopic cracks and delamination; however, the enamel is of normal thickness

• similar but more prominent enamel defects are seen on the incisors

skeleton

abnormal tooth morphology ( J:96349 )

• a gap is seen between the enamel and the dentin core

abnormal enamel morphology ( J:96349 )

• enamel surface of the molars appears rough with microscopic cracks and delamination; however, the enamel is of normal thickness

• similar but more prominent enamel defects are seen on the incisors

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
amelogenesis imperfecta type 1B		DOID:0110052	OMIM:104500	J:96349

Genotype
MGI:3574665

ht8

• Allelic Composition: Enam^Rgsc395/Enam⁺
• Genetic Background: involves: C57BL/6JJcl * DBA/2J

craniofacial

abnormal tooth morphology ( J:96349 )

• a gap is seen between the enamel and the dentin core

abnormal enamel morphology ( J:96349 )

• enamel surface of the molars appears rough with microscopic cracks and delamination; however, the enamel is of normal thickness

• similar but more prominent enamel defects are seen on the incisors

growth/size/body

abnormal tooth morphology ( J:96349 )

• a gap is seen between the enamel and the dentin core

abnormal enamel morphology ( J:96349 )

• enamel surface of the molars appears rough with microscopic cracks and delamination; however, the enamel is of normal thickness

• similar but more prominent enamel defects are seen on the incisors

skeleton

abnormal tooth morphology ( J:96349 )

• a gap is seen between the enamel and the dentin core

abnormal enamel morphology ( J:96349 )

• enamel surface of the molars appears rough with microscopic cracks and delamination; however, the enamel is of normal thickness

• similar but more prominent enamel defects are seen on the incisors

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
amelogenesis imperfecta type 1B		DOID:0110052	OMIM:104500	J:96349