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Symbol
Name
ID
Cep290
centrosomal protein 290
MGI:2384917
Phenotype annotations related to cardiovascular system
Darker colors indicate more annotations
Human Phenotypes
Atrial septal defect
Ventricular septal defect
Hypertension
Disease(s) Associated with CEP290
Meckel syndrome 4
Senior-Loken syndrome

Mouse Phenotypes
abnormal blood vessel morphology
abnormal inferior vena cava morphology
dual inferior vena cava
double outlet right ventricle
d-loop transposition of the great arteries
atrial septal defect
atrioventricular septal defect
ventricular septal defect
inlet ventricular septal defect
hemorrhage
Availability Mouse Genotype
Cep290b2b1454Clo/Cep290b2b1454Clo
Cep290b2b1752Clo/Cep290b2b1752Clo
Cep290em1(IMPC)Mbp/Cep290em1(IMPC)Mbp

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