P2rx7 | purinergic receptor P2X, ligand-gated ion channel, 7

GeneMGI:1339957Synonyms: P2X(7), P2X7R, +1 more

Physiological systems

20 / 24 physiological systems tested

2 Significantly impacted by the knock-out

 Homeostasis/metabolism Vision/eye

18 No significant impact

4 Not tested

Gene metrics:3Significant phenotypes
1Associated diseases
Expression examined in:70Adult tissues
0Embryo tissues

Phenotypes

decreased circulating glycerol level1 supporting datasetP2rx7tm1a(EUCOMM)WtsihomozygoteEarly adult2.41x10-5 
abnormal lens morphology1 supporting datasetP2rx7tm1b(EUCOMM)WtsihomozygoteEarly adult4.44x10-5 
cataract1 supporting datasetP2rx7tm1b(EUCOMM)WtsihomozygoteEarly adult1.41x10-5 
* 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)
aortaheterozygoten/a0% (0/2)0.19% (1/533)
bloodheterozygoten/a0% (0/2)0% (0/17)
boneheterozygoten/a0% (0/2)0% (0/394)
bone marrowheterozygoten/a0% (0/2)0% (0/22)
brainheterozygoteWholemount images
100% (2/2)0.86% (5/579)
brainstemheterozygoten/a0% (0/2)0.41% (2/490)
brown adipose tissueheterozygoten/a0% (0/2)0% (0/588)
cartilage tissueheterozygoten/a0% (0/2)0.22% (1/454)
cecumheterozygoten/a0% (0/2)7.75% (22/284)
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Human diseases caused by P2rx7 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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P2rx7tm1(EGFP_CreERT2)WtsiReporter-tagged deletion allele (with selection cassette)ES Cell
mouse
P2rx7tm1(KOMP)VlcgReporter-tagged deletion allele (with selection cassette)ES Cell
P2rx7tm1a(EUCOMM)WtsiKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
mouse
P2rx7tm1b(EUCOMM)WtsiReporter-tagged deletion allele (with selection cassette)mouse
P2rx7tm1e(EUCOMM)WtsiTargeted, non-conditional alleleES Cell

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