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Human Disease and Mouse Model Detail
Human Disease Joubert Syndrome 1; JBTS1
OMIM ID: 213300
Synonyms Cerebellooculorenal Syndrome 1; CORS1; Cerebelloparenchymal Disorder IV; CPD4; Joubert Syndrome; Joubert Syndrome; JBTS; Joubert-Boltshauser Syndrome
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Gene is associated with the disease in this species
      Mouse Homologs Human Homologs Mouse Models Mouse : Human
Homology Class
     2410089E03Rik C5orf42*   1:1 Homology
Cep41 CEP41*   1:1 Homology
Inpp5e INPP5E*   1:1 Homology
Rpgrip1l RPGRIP1L*   1:1 Homology
Tctn2 TCTN2*   1:1 Homology
Tctn3 TCTN3*   1:1 Homology
Tmem138 TMEM138*   1:1 Homology
Tmem231 TMEM231*   1:1 Homology
Tmem237 TMEM237*   1:1 Homology
Ttc21b TTC21B*   1:1 Homology

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
09/23/2014
MGI 5.19
The Jackson Laboratory