Cep83 | centrosomal protein 83

GeneMGI:1924298Synonyms: 5730513H21Rik, 2600001G24Rik, +2 more

Physiological systems

19 / 24 physiological systems tested

5 Significantly impacted by the knock-out

 Homeostasis/metabolism Embryo Growth/size/body region Mortality/aging Cardiovascular system

14 No significant impact

5 Not tested

Gene metrics:6Significant phenotypes
2Associated diseases
Expression examined in:73Adult tissues
29Embryo tissues

Phenotypes

abnormal embryo size1 supporting datasetCep83tm1.1(KOMP)VlcghomozygoteE9.5N/A * 
embryonic growth retardation1 supporting datasetCep83tm1.1(KOMP)VlcghomozygoteE9.5N/A * 
preweaning lethality, complete penetrance3 supporting datasetsCep83tm1.1(KOMP)VlcghomozygoteEarly adultN/A * 
embryonic lethality prior to tooth bud stage1 supporting datasetCep83tm1.1(KOMP)VlcghomozygoteE12.5N/A * 
abnormal pericardium morphology1 supporting datasetCep83tm1.1(KOMP)VlcghomozygoteE9.5N/A * 
edema1 supporting datasetCep83tm1.1(KOMP)VlcghomozygoteE9.5N/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

adrenal glandheterozygoten/a0% (0/2)0.7% (4/570)
aortaheterozygoteSection images
100% (2/2)0.19% (1/533)
bloodheterozygoten/a0% (0/1)0% (0/17)
bone marrowheterozygoten/a0% (0/2)0% (0/22)
brainheterozygoten/a100% (2/2)0.86% (5/579)
brainstemheterozygoten/an/a0.41% (2/490)
brown adipose tissueheterozygoteSection images
50% (1/2)0% (0/588)
cartilage tissueheterozygoten/an/a0.22% (1/454)
cecumheterozygoteSection images
100% (1/1)7.75% (22/284)
cerebellumheterozygoteSection images
100% (2/2)0.56% (3/532)
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Human diseases caused by Cep83 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.






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Histopathology

IMPC related publications

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Cep83tm1(KOMP)VlcgReporter-tagged deletion allele (with selection cassette)ES Cell
mouse
Cep83tm1.1(KOMP)VlcgReporter-tagged deletion allele (post Cre, with no selection cassette)mouse
Cep83tm1a(EUCOMM)HmguKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
Cep83tm1e(EUCOMM)HmguTargeted, non-conditional alleleES Cell

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