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Human Disease and Mouse Model Detail
Human Disease

Term: Blepharophimosis, Ptosis, and Epicanthus Inversus; BPES
OMIM ID: 110100

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...
Foxl2 FOXL2
  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
Foxl2tm1Gpil/Foxl2tm1Gpil   either: 129S6/SvEvTac or (involves: 129S6/SvEvTac * C57BL/6J) or (involves: 129S6/SvEvTac * NIHS-BC) J:90371
Foxl2tm1Tre/Foxl2tm1Tre   involves: 129P2/OlaHsd * Black Swiss * CD-1 J:87737

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