Pi4ka | phosphatidylinositol 4-kinase alpha

GeneMGI:2448506Synonyms: Pik4ca

Physiological systems

19 / 24 physiological systems tested

4 Significantly impacted by the knock-out

 Immune system Hematopoietic system Behavior/neurological Mortality/aging

15 No significant impact

5 Not tested

Gene metrics:7Significant phenotypes
6Associated diseases
Expression examined in:73Adult tissues
29Embryo tissues

Phenotypes

increased erythrocyte cell number1 supporting datasetPi4katm1b(EUCOMM)WtsiheterozygoteEarly adult5.84x10-5 
preweaning lethality, complete penetrance3 supporting datasetsPi4katm1b(EUCOMM)WtsihomozygoteEarly adultN/A * 
increased hematocrit1 supporting datasetPi4katm1b(EUCOMM)WtsiheterozygoteEarly adult1.99x10-5 
embryonic lethality prior to organogenesis1 supporting datasetPi4katm1b(EUCOMM)WtsihomozygoteE9.5N/A * 
increased monocyte cell number1 supporting datasetPi4katm1b(EUCOMM)WtsiheterozygoteEarly adult2x10-10 
limb grasping1 supporting datasetPi4katm1b(EUCOMM)WtsiheterozygoteEarly adult9.29x10-6 
embryonic lethality prior to tooth bud stage1 supporting datasetPi4katm1b(EUCOMM)WtsihomozygoteE12.5N/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 glandheterozygoteSection images
100% (2/2)0.7% (4/570)
aortaheterozygoteSection images
50% (1/2)0.19% (1/533)
bloodheterozygoten/a0% (0/2)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 tissueheterozygoten/a0% (0/2)0% (0/588)
cartilage tissueheterozygoten/an/a0.22% (1/454)
cecumheterozygoten/a0% (0/1)7.75% (22/284)
cerebellumheterozygoteSection images
100% (2/2)0.56% (3/532)
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Human diseases caused by Pi4ka 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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Pi4katm1a(EUCOMM)WtsiKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
mouse
Pi4katm1b(EUCOMM)WtsiReporter-tagged deletion allele (with selection cassette)mouse
Pi4katm1e(EUCOMM)WtsiTargeted, non-conditional alleleES Cell

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