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Human Disease and Mouse Model Detail
Human Disease

Term: Papillorenal Syndrome
OMIM ID: 120330

Synonyms Coloboma of Optic Nerve with Renal Disease; Optic Coloboma, Vesicoureteral Reflux, and Renal Anomalies; Optic Nerve Coloboma with Renal Disease; Renal-Coloboma Syndrome; Renal-Coloboma Syndrome with Macular Abnormalities
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...
Pax2 PAX2
  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
Pax21Neu/Pax2+   involves: 102 * CD-1 J:145105
Pax2M1Bpb/Pax2+   C57BL/6-Pax2M1Bpb J:159240
Pax2M1Bpb/Pax2M1Bpb   C57BL/6-Pax2M1Bpb J:159240
Pax2tm1Pgr/Pax2tm1Pgr   involves: 129S1/Sv * 129X1/SvJ J:36834
Pax2tm1Pgr/Pax2+   involves: 129S1/Sv * 129X1/SvJ J:36834
Pax2tm1Pgr/Pax2tm1Pgr   involves: 129S1/Sv * 129X1/SvJ * C57BL/6 J:92326

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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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory