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Symbol
Name
ID

Cep290
centrosomal protein 290
MGI:2384917

Phenotype annotations related to craniofacial

Darker colors indicate more annotations

Human Phenotypes	Dandy-Walker malformation	Microcephaly	Encephalocele	Occipital encephalocele	Cleft palate	Hyposmia
Disease(s) Associated with CEP290	Dandy-Walker malformation	Microcephaly	Encephalocele	Occipital encephalocele	Cleft palate	Hyposmia
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome 4

Mouse Phenotypes		micrognathia	abnormal facial morphology	abnormal olfactory epithelium morphology	abnormal head shape
Availability	Mouse Genotype	micrognathia	abnormal facial morphology	abnormal olfactory epithelium morphology	abnormal head shape
	Cep290^b2b1454Clo/Cep290^b2b1454Clo
	Cep290^em1(IMPC)Mbp/Cep290^em1(IMPC)Mbp
	Cep290^rd16/Cep290^rd16

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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