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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Amelxtm1Kul
targeted mutation 1, Ashok B Kulkarni
MGI:2177294
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Amelxtm1Kul/Amelxtm1Kul involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:2177295
cx2
Amelxtm1Kul/Amelxtm1Kul
Tg(AMELX*P70T)2Gibs/?
involves: 129S1/Sv * 129X1/SvJ MGI:5086118
cx3
Amelxtm1Kul/Amelxtm1Kul
Tg(AMELX-LRAP)9Gibs/0
involves: 129S1/Sv * 129X1/SvJ MGI:5086218


Genotype
MGI:2177295
hm1
Allelic
Composition
Amelxtm1Kul/Amelxtm1Kul
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Amelxtm1Kul mutation (1 available); any Amelx mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Enamel hypoplasia in Amelxtm1Kul/Amelxtm1Kul incisors

skeleton
• teeth show a chalky-white discoloration as early as 2 weeks of age
• absence of prism pattern of organized mineral crystals in enamel
• mandibular molars show an enamel thickness with less than 10% of normal enamel
• tips of incisors and molars are broken

craniofacial
• teeth show a chalky-white discoloration as early as 2 weeks of age
• absence of prism pattern of organized mineral crystals in enamel
• mandibular molars show an enamel thickness with less than 10% of normal enamel
• tips of incisors and molars are broken

growth/size/body
• teeth show a chalky-white discoloration as early as 2 weeks of age
• absence of prism pattern of organized mineral crystals in enamel
• mandibular molars show an enamel thickness with less than 10% of normal enamel
• tips of incisors and molars are broken

Mouse Models of Human Disease
OMIM ID Ref(s)
Amelogenesis Imperfecta, Type IE; AI1E 301200 J:71126




Genotype
MGI:5086118
cx2
Allelic
Composition
Amelxtm1Kul/Amelxtm1Kul
Tg(AMELX*P70T)2Gibs/?
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Amelxtm1Kul mutation (1 available); any Amelx mutation (17 available)
Tg(AMELX*P70T)2Gibs mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• molar enamel has a hyperplastic intermedium cell layer exhibiting transition to tumor cells

neoplasm
• molar enamel has a hyperplastic intermedium cell layer exhibiting transition to tumor cells
• tumor is composed of benign, eosinophilic, polygonal-shaped cells with intercellular bridges
• calcification is not obvious in these tumors

craniofacial
• molar enamel has a hyperplastic intermedium cell layer exhibiting transition to tumor cells

growth/size/body
• molar enamel has a hyperplastic intermedium cell layer exhibiting transition to tumor cells

Mouse Models of Human Disease
OMIM ID Ref(s)
Amelogenesis Imperfecta, Type IE; AI1E 301200 J:122914




Genotype
MGI:5086218
cx3
Allelic
Composition
Amelxtm1Kul/Amelxtm1Kul
Tg(AMELX-LRAP)9Gibs/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Amelxtm1Kul mutation (1 available); any Amelx mutation (17 available)
Tg(AMELX-LRAP)9Gibs mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• molar enamel surface has a rough appearance
• hypoplastic enamel lacks normal prism structure
• enamel thickness is 10-20 um in contrast to 100 um observed in wild-type mice

craniofacial
• molar enamel surface has a rough appearance
• hypoplastic enamel lacks normal prism structure
• enamel thickness is 10-20 um in contrast to 100 um observed in wild-type mice

growth/size/body
• molar enamel surface has a rough appearance
• hypoplastic enamel lacks normal prism structure
• enamel thickness is 10-20 um in contrast to 100 um observed in wild-type mice





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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
06/22/2016
MGI 6.04
The Jackson Laboratory