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Human Disease and Mouse Model Detail
Human Disease

Term: Osteoarthritis Susceptibility 1; OS1
OMIM ID: 165720

Synonyms OA; Osteoarthritis of Hip, Female-Specific, Susceptibility to; Osteoarthrosis
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...
     
Bmpr1a BMPR1A
Col9a1 COL9A1
Enpp1 ENPP1
Errfi1 ERRFI1
Gdf5 GDF5
Matn3 MATN3
Smad3 SMAD3
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Frzb FRZB
  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 are distinct.1
Bmpr1atm2.1Bhr/Bmpr1atm2.2Bhr
Tg(Gdf5-cre-ALPP)1Kng/0		 2 involves: 129 * C57BL/6 * FVB/N-Tg(Gdf5-cre-ALPP)1Kng J:97780
Col9a1tm1Jae/Col9a1tm1Jae   involves: 129S2/SvPas J:117910
Enpp1ttw/Enpp1ttw   involves: ICR J:19124, J:37369
Errfi1tm1Gvw/Errfi1tm1Gvw   Not Specified J:100927
Gdf5Rgsc451/Gdf5Rgsc451   C57BL/6JJcl-Gdf5Rgsc451 J:125122
Matn3tm1Brd/Matn3tm1Brd   involves: 129S7/SvEvBrd * C57BL/6 J:112002
Smad3tm1Cxd/Smad3tm1Cxd   involves: 129S6/SvEvTac J:68792

1Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
2Conditionally targeted allele(s)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory