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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 (2 available); any Amelx mutation (25 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Enamel hypoplasia in Amelxtm1Kul/Amelxtm1Kul incisors

craniofacial
abnormal tooth morphology ( J:71126 )
• teeth show a chalky-white discoloration as early as 2 weeks of age
abnormal enamel rod pattern ( J:71126 )
• absence of prism pattern of organized mineral crystals in enamel
reduced enamel thickness ( J:71126 )
• mandibular molars show an enamel thickness with less than 10% of normal enamel
brittle teeth ( J:71126 )
• tips of incisors and molars are broken

growth/size/body
abnormal tooth morphology ( J:71126 )
• teeth show a chalky-white discoloration as early as 2 weeks of age
abnormal enamel rod pattern ( J:71126 )
• absence of prism pattern of organized mineral crystals in enamel
reduced enamel thickness ( J:71126 )
• mandibular molars show an enamel thickness with less than 10% of normal enamel
brittle teeth ( J:71126 )
• tips of incisors and molars are broken

skeleton
abnormal tooth morphology ( J:71126 )
• teeth show a chalky-white discoloration as early as 2 weeks of age
abnormal enamel rod pattern ( J:71126 )
• absence of prism pattern of organized mineral crystals in enamel
reduced enamel thickness ( J:71126 )
• mandibular molars show an enamel thickness with less than 10% of normal enamel
brittle teeth ( J:71126 )
• tips of incisors and molars are broken

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
amelogenesis imperfecta type 1E DOID:0110058 OMIM: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 (2 available); any Amelx mutation (25 available)
Tg(AMELX*P70T)2Gibs mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
neoplasm
increased tumor incidence ( J:122914 )
• 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
abnormal enamel morphology ( J:122914 )
• molar enamel has a hyperplastic intermedium cell layer exhibiting transition to tumor cells

growth/size/body
abnormal enamel morphology ( J:122914 )
• molar enamel has a hyperplastic intermedium cell layer exhibiting transition to tumor cells

skeleton
abnormal enamel morphology ( J:122914 )
• molar enamel has a hyperplastic intermedium cell layer exhibiting transition to tumor cells

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
amelogenesis imperfecta type 1E DOID:0110058 OMIM: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 (2 available); any Amelx mutation (25 available)
Tg(AMELX-LRAP)9Gibs mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
craniofacial
abnormal enamel morphology ( J:122916 )
• molar enamel surface has a rough appearance
abnormal enamel rod pattern ( J:122916 )
• hypoplastic enamel lacks normal prism structure
reduced enamel thickness ( J:122916 )
• enamel thickness is 10-20 um in contrast to 100 um observed in wild-type mice

growth/size/body
abnormal enamel morphology ( J:122916 )
• molar enamel surface has a rough appearance
abnormal enamel rod pattern ( J:122916 )
• hypoplastic enamel lacks normal prism structure
reduced enamel thickness ( J:122916 )
• enamel thickness is 10-20 um in contrast to 100 um observed in wild-type mice

skeleton
abnormal enamel morphology ( J:122916 )
• molar enamel surface has a rough appearance
abnormal enamel rod pattern ( J:122916 )
• hypoplastic enamel lacks normal prism structure
reduced enamel thickness ( J:122916 )
• 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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory