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Name
ID

Cep290
centrosomal protein 290
MGI:2384917

Phenotype annotations related to nervous system

*	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

Cep290^{Gt(CC0582)Wtsi}/Cep290^{Gt(CC0582)Wtsi}

*

Cep290^rd16/Cep290^rd16

Cep290^tm1.1Jgg/Cep290^tm1.1Jgg

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)
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