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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID
Cep290
centrosomal protein 290
MGI:2384917
65 phenotypes from 6 alleles in 10 genetic backgrounds
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Allelic Composition
Genetic Background
Annotated Term Reference
Cep290b2b1454Clo/Cep290b2b1454Clo
C57BL/6J-Cep290b2b1454Clo
abnormal inferior vena cava morphology J:175213
accessory spleen J:175213
atrioventricular septal defect J:175213
double outlet right ventricle J:175213
dual inferior vena cava J:175213
heterotaxia J:175213
inlet ventricular septal defect J:175213
kidney cyst J:175213
left-sided isomerism J:175213
micrognathia J:175213
polycystic kidney J:175213
renal glomerulus cyst J:175213
spleen hypoplasia J:175213
Cep290b2b1752Clo/Cep290b2b1752Clo
C57BL/6J-Cep290b2b1752Clo
atrial septal defect J:175213
atrioventricular septal defect J:175213
d-loop transposition of the great arteries J:175213
heterotaxia J:175213
spleen hypoplasia J:175213
ventricular septal defect J:175213
Cep290em1(IMPC)Mbp/Cep290+
C57BL/6N-Cep290em1(IMPC)Mbp/MbpMmucd
decreased mean corpuscular hemoglobin J:211773
decreased mean corpuscular hemoglobin concentration J:211773
no spontaneous movement J:211773
Cep290em1(IMPC)Mbp/Cep290em1(IMPC)Mbp
C57BL/6N-Cep290em1(IMPC)Mbp/MbpMmucd
abnormal blood vessel morphology J:211773
abnormal facial morphology J:211773
abnormal head shape J:211773
hemorrhage J:211773
no spontaneous movement J:211773
preweaning lethality, incomplete penetrance J:211773
Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi
129P2/OlaHsd-Cep290Gt(CC0582)Wtsi
abnormal cell nucleus morphology J:226246
abnormal cerebral hemisphere morphology J:212182
abnormal DNA replication J:226246
abnormal double-strand DNA break repair J:226246
abnormal kidney collecting duct morphology J:212182
abnormal renal tubule epithelial cell primary cilium morphology J:212182
absent kidney epithelial cell primary cilium J:226246
hydrocephaly J:212182
increased susceptibility to age-related retinal degeneration J:212182
kidney cortex cyst J:212182
kidney cyst J:212182
normal liver/biliary system phenotype J:212182
normal mortality/aging J:212182
normal nervous system phenotype J:212182
photoreceptor inner segment degeneration J:212182
photoreceptor outer segment degeneration J:212182
polydipsia J:212182
polyuria J:212182
retina outer nuclear layer degeneration J:212182
thin retina outer nuclear layer J:212182
Cep290Gt(CC0582)Wtsi/Cep290Gt(CC0582)Wtsi
B6J.129P2-Cep290Gt(CC0582)Wtsi
prenatal lethality, incomplete penetrance J:212182
Cep290rd16/Cep290rd16
BXD24/TyJ-Cep290rd16/J
abnormal cone electrophysiology J:108467
abnormal retina pigment epithelium morphology J:108467
abnormal rod electrophysiology J:108467
photoreceptor outer segment degeneration J:108467
retina degeneration J:108467
retina spots J:108467
thin retina outer nuclear layer J:108467
Cep290rd16/Cep290rd16
involves: BXD24/TyJ
abnormal cilium morphology J:204004
abnormal olfactory epithelium morphology J:125553
anosmia J:125553
Cep290rd16/Cep290rd16
involves: BXD24/TyJ * C57BL/6
abnormal cone electrophysiology J:169232
abnormal photoreceptor outer segment morphology J:169232
abnormal retina photoreceptor morphology J:169232
photoreceptor inner segment degeneration J:169232
photoreceptor outer segment degeneration J:169232
retina cone cell degeneration J:169232
retina photoreceptor degeneration J:169232
retina rod cell degeneration J:169232
short photoreceptor outer segment J:169232
thin retina outer nuclear layer J:169232
Cep290tm1.1Jgg/Cep290tm1.1Jgg
B6.129-Cep290tm1.1Jgg
decreased body size J:101977
female infertility J:101977
male infertility J:101977
retina degeneration J:101977
slow postnatal weight gain J:101977
Cep290tm1.1Jgg/Cep290tm1.1Jgg
involves: 129
abnormal cerebellum morphology J:172420
abnormal cerebellum vermis morphology J:172420
decreased body size J:172420
reduced cerebellar foliation J:172420
retina degeneration J:172420

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