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Human Disease and Mouse Model Detail
Human Disease

Term: Paget Disease of Bone; PDB
OMIM ID: 602080

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...
Sqstm1 SQSTM1
  mousehuman...both mouse and human orthologous genes.
     
Inpp5d INPP5D
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Tnfrsf11a TNFRSF11A
  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
Sqstm1tm1.1Sral/Sqstm1tm1.1Sral   involves: 129/Sv * 129P2/OlaHsd * C57BL/6 J:173755
Sqstm1tm1.1Sral/Sqstm1+   involves: 129/Sv * 129P2/OlaHsd * C57BL/6 J:173755
Models with phenotypic similarity to human disease where etiologies are distinct.2
Inpp5dtm1Rkh/Inpp5dtm1Rkh   involves: 129S1/Sv * 129X1/SvJ J:78771
No similarity to the expected human disease phenotype was found.3
NOT Sqstm1tm1Jjw/Sqstm1tm1Jjw   involves: 129 * C57BL/6 J:141179

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.
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