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Symbol
Name
ID
Cep290
centrosomal protein 290
MGI:2384917
Phenotype annotations related to growth/size/body
Darker colors indicate more annotations
Human Phenotypes
Short stature
Obesity
Intrauterine growth retardation
Disease(s) Associated with CEP290
Bardet-Biedl syndrome 14
Meckel syndrome 4
Senior-Loken syndrome

Mouse Phenotypes
abnormal facial morphology
abnormal olfactory epithelium morphology
abnormal head shape
slow postnatal weight gain
kidney cyst
kidney cortex cyst
polycystic kidney
renal glomerulus cyst
decreased body size
heterotaxia
left-sided isomerism
Availability Mouse Genotype
Cep290b2b1454Clo/Cep290b2b1454Clo
Cep290b2b1752Clo/Cep290b2b1752Clo
Cep290em1(IMPC)Mbp/Cep290em1(IMPC)Mbp
Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi
Cep290rd16/Cep290rd16
Cep290tm1.1Jgg/Cep290tm1.1Jgg

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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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory