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Human Disease and Mouse Model Detail
Human Disease Joubert Syndrome 1; JBTS1
OMIM ID: 213300
Human Phenotype Ontology associations
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

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     C5orf42* 2410089E03Rik   HomoloGene and HGNC
CEP41* Cep41   HomoloGene and HGNC
INPP5E* Inpp5e   HomoloGene and HGNC
RPGRIP1L* Rpgrip1l   HomoloGene and HGNC
TCTN2* Tctn2   HomoloGene and HGNC
TCTN3* Tctn3   HomoloGene and HGNC
TMEM138* Tmem138   HomoloGene and HGNC
TMEM231* Tmem231   HomoloGene and HGNC
TMEM237* Tmem237   HomoloGene and HGNC
TTC21B* Ttc21b   HomoloGene and HGNC

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
MGI 6.06
The Jackson Laboratory