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Human Disease and Mouse Model Detail
Human Disease

Term: Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3; EEC3
OMIM ID: 604292

Synonyms EEC Syndrome 3
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...
Trp63 TP63
  mousehuman...both mouse and human orthologous genes.
     

Mouse Models
Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Trp63tm1Brd/Trp63tm1Brd   involves: 129S7/SvEvBrd * C57BL/6J J:54636
Trp63tm1Fmc/Trp63tm1Fmc   involves: 129S4/SvJae J:54637
Trp63tm2Brd/Trp63tm2Brd   involves: 129S7/SvEvBrd * C57BL/6J J:54636

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory