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Human Disease and Mouse Model Detail
Human Disease

Term: Amelogenesis Imperfecta, Type IE; AI1E
OMIM ID: 301200

Synonyms Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth; Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1; Amelogenesis Imperfecta, X-Linked 1; AIH1; Enamel Hypoplasia, X-Linked
Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene
Human Gene
 
Characteristics of this human disease are associated with mutations in...
Amelx AMELX
  mousehuman...both mouse and human orthologous genes.
     
Transgenes and
other mutation types
Tg(AMELX*P70T)2Gibs   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
AmelxRgsc888/Amelx+   involves: C57BL/6JJcl * DBA/2J J:157947
AmelxRgsc888/Y   involves: C57BL/6JJcl * DBA/2J J:157947
AmelxRgsc888/AmelxRgsc888   involves: C57BL/6JJcl * DBA/2J J:157947
Amelxtm1Kul/Amelxtm1Kul
Tg(AMELX*P70T)2Gibs/?
  involves: 129S1/Sv * 129X1/SvJ J:122914
Amelxtm1Kul/Amelxtm1Kul   involves: 129S1/Sv * 129X1/SvJ * C57BL/6 J:71126
Models involving transgenes or other mutation types.2
Amelxtm1Kul/Amelxtm1Kul
Tg(AMELX*P70T)2Gibs/?
  involves: 129S1/Sv * 129X1/SvJ J:122914
Tg(AMELX*P70T)2Gibs/?   Not Specified J:122914
No similarity to the expected human disease phenotype was found.3
NOT Tg(Amelx)42Msnd/Tg(Amelx)42Msnd   involves: C57BL/6J * CBA/J * DBA/2J J:100004

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2Models involving transgenes or other mutation types may also appear in other sections of the table.
3One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory