hm1

Amelx^tm1Kul/Amelx^tm1Kul
involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Key:
♀	phenotype observed in females	WTSI	Wellcome Trust Sanger Institute
♂	phenotype observed in males	Euro	Europhenome
N	normal phenotype

Enamel hypoplasia in Amelx^tm1Kul/Amelx^tm1Kul incisors

craniofacial

abnormal tooth morphology ( J:71126 )

• teeth show a chalky-white discoloration as early as 2 weeks of age (J:71126)

abnormal enamel rod pattern ( J:71126 )

• absence of prism pattern of organized mineral crystals in enamel (J:71126)

reduced enamel thickness ( J:71126 )

• mandibular molars show an enamel thickness with less than 10% of normal enamel (J:71126)

brittle teeth ( J:71126 )

• tips of incisors and molars are broken (J:71126)

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

cx2

Amelx^tm1Kul/Amelx^tm1Kul
Tg(AMELX*P70T)2Gibs/?
involves: 129S1/Sv * 129X1/SvJ

Key:
♀	phenotype observed in females	WTSI	Wellcome Trust Sanger Institute
♂	phenotype observed in males	Euro	Europhenome
N	normal phenotype

tumorigenesis

increased tumor incidence ( J:122914 )

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

• tumor is composed of benign, eosinophilic, polygonal-shaped cells with intercellular bridges (J:122914)

• calcification is not obvious in these tumors (J:122914)

craniofacial

abnormal enamel morphology ( J:122914 )

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

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

cx3

Amelx^tm1Kul/Amelx^tm1Kul
Tg(AMELX-LRAP)9Gibs/0
involves: 129S1/Sv * 129X1/SvJ

Key:
♀	phenotype observed in females	WTSI	Wellcome Trust Sanger Institute
♂	phenotype observed in males	Euro	Europhenome
N	normal phenotype

craniofacial

abnormal enamel morphology ( J:122916 )

• molar enamel surface has a rough appearance (J:122916)

abnormal enamel rod pattern ( J:122916 )

• hypoplastic enamel lacks normal prism structure (J:122916)

reduced enamel thickness ( J:122916 )

• enamel thickness is 10-20 um in contrast to 100 um observed in wild-type mice (J:122916)