Joubert syndrome 5 Disease Ontology Browser

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Disease Ontology Browser

Joubert syndrome 5 (DOID:0111000)
Alliance: disease page
Synonyms: JBTS5
Alt IDs: OMIM:610188, MESH:C537688
Definition: A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.

Disease References using Mouse Models (3)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/30/2024 MGI 6.23

Allelic Composition	Genetic Background	Reference	Phenotypes
Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi	129P2/OlaHsd-Cep290^{Gt(CC0582)Wtsi}	J:212182, J:226246	View
Cep290tm1.1Jgg/Cep290tm1.1Jgg	involves: 129	J:172420	View