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Human Disease and Mouse Model Detail
Human Disease

Term: Peters Anomaly
OMIM ID: 604229

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.
     
Ext1 EXT1
Foxe3 FOXE3
Msx2 MSX2
Tgfb2 TGFB2
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Cyp1b1 CYP1B1
Pitx2 PITX2
  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
Pax61Jrt/Pax6+   C3.B6-Pax61Jrt J:86523
Pax6Sey-Neu/Pax6+   involves: 102 * C3H J:12101
Pax6Sey/Pax6+   Not Specified J:22316
Pax6tm1.2Xzh/Pax6tm1.2Xzh   B6.129S6-Pax6tm1.2Xzh J:182769
Pax6tm2Pgr/Pax6+
Tg(Pax6-cre,GFP)1Pgr/0
4 involves: 129S1/Sv * 129X1/SvJ * FVB J:163191
Models with phenotypic similarity to human disease where etiologies are distinct.2
Ext1tm1Yama/Ext1tm1Yama
Tg(Wnt1-cre)11Rth/0
4 B6.Cg-Ext1tm1Yama Tg(Wnt1-cre)11Rth J:152572
Foxe3dyl/Foxe3dyl   BALB/cLiA-Foxe3dyl J:6131, J:59880, J:76605
Msx2tm1Rilm/Msx2tm1Rilm   involves: 129S4/SvJae J:184697
Tgfb2tm1Doe/Tgfb2tm1Doe   involves: 129P2/OlaHsd * Black Swiss J:73681
No similarity to the expected human disease phenotype was found.3
NOT Pax6Sey-Dey/Pax6+   C3H/HeJ-Pax6Sey-Dey J:10820

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
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.
4Conditionally targeted allele(s)

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