Cep290 | centrosomal protein 290

GeneMGI:2384917Synonyms: b2b1454Clo, Nphp6, +2 more

Physiological systems

22 / 24 physiological systems tested

7 Significantly impacted by the knock-out

 Embryo Growth/size/body region Hematopoietic system Behavior/neurological Mortality/aging Craniofacial Cardiovascular system

15 No significant impact

2 Not tested

Gene metrics:9Significant phenotypes
10Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues

Phenotypes

abnormal head shape1 supporting datasetCep290em1(IMPC)MbphomozygoteE18.5N/A * 
abnormal blood vessel morphology1 supporting datasetCep290em1(IMPC)MbphomozygoteE18.5N/A * 
no spontaneous movement1 supporting datasetCep290em1(IMPC)MbpheterozygoteE18.5N/A * 
decreased mean corpuscular hemoglobin1 supporting datasetCep290em1(IMPC)MbpheterozygoteEarly adult6.48x10-5 
abnormal facial morphology1 supporting datasetCep290em1(IMPC)MbphomozygoteE18.5N/A * 
hemorrhage1 supporting datasetCep290em1(IMPC)MbphomozygoteE18.5N/A * 
no spontaneous movement1 supporting datasetCep290em1(IMPC)MbphomozygoteE18.5N/A * 
decreased mean corpuscular hemoglobin concentration1 supporting datasetCep290em1(IMPC)MbpheterozygoteEarly adult7.02x10-5 
preweaning lethality, incomplete penetrance3 supporting datasetsCep290em1(IMPC)MbphomozygoteEarly adultN/A * 
abnormal placenta morphology1 supporting datasetCep290em1(IMPC)MbphomozygoteE18.5N/A * 
* Does not have a P-value assigned because it was manually marked as significant.
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* This parameter was manually assessed for significance.
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lacZ Expression

Associated images

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Histopathology

IMPC related publications

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Cep290em1(IMPC)MbpExon Deletionmouse
Cep290em1HPoint Mutationmouse
Cep290tm387964(L1L2_Bact_P)KO first allele (reporter-tagged insertion with conditional potential)targeting vector

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