Symbol Name ID |
Cep290
centrosomal protein 290 MGI:2384917 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Dandy-Walker malformation |
Microcephaly |
Encephalocele |
Occipital encephalocele |
Hyposmia |
Oculomotor apraxia |
Thickened superior cerebellar peduncle |
Hydrocephalus |
Hypoplasia of the corpus callosum |
Anencephaly |
Aplasia/Hypoplasia of the cerebellar vermis |
Agenesis of cerebellar vermis |
Molar tooth sign on MRI |
Meningocele |
Ataxia |
Polydipsia |
Aggressive behavior |
Intellectual disability |
Intellectual disability, mild |
Global developmental delay |
Seizure |
Disease(s) Associated with CEP290 | |||||||||||||||||||||
Bardet-Biedl syndrome 14 | |||||||||||||||||||||
Joubert syndrome 5 | |||||||||||||||||||||
Leber congenital amaurosis 10 | |||||||||||||||||||||
Meckel syndrome 4 | |||||||||||||||||||||
Senior-Loken syndrome |
Mouse Phenotypes | nervous system phenotype |
reduced cerebellar foliation |
hydrocephaly |
abnormal cerebral hemisphere morphology |
abnormal cerebellum morphology |
abnormal cerebellum vermis morphology |
abnormal retina photoreceptor morphology |
photoreceptor inner segment degeneration |
abnormal photoreceptor outer segment morphology |
short photoreceptor outer segment |
photoreceptor outer segment degeneration |
retina cone cell degeneration |
retina rod cell degeneration |
retina photoreceptor degeneration |
|
Availability | Mouse Genotype | ||||||||||||||
Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi | * | ||||||||||||||
Cep290rd16/Cep290rd16 | |||||||||||||||
Cep290tm1.1Jgg/Cep290tm1.1Jgg |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 07/05/2024 MGI 6.24 |
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