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Human Disease and Mouse Model Detail
Human Disease

Term: Aniridia; AN
OMIM ID: 106210

Synonyms Aniridia II, Formerly; AN2, FORMERLY
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...
Pax6 PAX6
  mousehuman...both mouse and human orthologous genes.
     
Wt1 WT1
  human...the human gene.
     MGI data currently do not associate this disease with mutations in the orthologous mouse gene.
     

Mouse Models
Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Pax63Neu/Pax6+   either: (involves: 102 * C3H) or (involves: C3H) J:73625
Pax64Neu/Pax6+   either: (involves: 102 * C3H) or (involves: C3H) J:73625
Pax67Neu/Pax6+   involves: 102 * C3H J:73625
Pax6Sey-Dey/Pax6+   C3H/HeJ-Pax6Sey-Dey J:10820
Pax6Sey-Neu/Pax6+   involves: 102 * C3H J:83026
Pax6Sey/Pax6+   Not Specified J:22316

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