Pnkp | polynucleotide kinase 3'- phosphatase

GeneMGI:1891698Synonyms: PNK, 1810009G08Rik

Physiological systems

21 / 24 physiological systems tested

5 Significantly impacted by the knock-out

 Integument Growth/size/body region Vision/eye Mortality/aging Renal/urinary system

16 No significant impact

3 Not tested

Gene metrics:8Significant phenotypes
6Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues

Phenotypes

preweaning lethality, complete penetrance3 supporting datasetsPnkpem1(IMPC)MbphomozygoteEarly adultN/A * 
enlarged kidney1 supporting datasetPnkpem1(IMPC)MbpheterozygoteEarly adultN/A * 
embryonic lethality prior to organogenesis1 supporting datasetPnkpem1(IMPC)MbphomozygoteE9.5N/A * 
microphthalmia1 supporting datasetPnkpem1(IMPC)MbpheterozygoteEarly adultN/A * 
abnormal kidney morphology1 supporting datasetPnkpem1(IMPC)MbpheterozygoteEarly adultN/A * 
single kidney1 supporting datasetPnkpem1(IMPC)MbpheterozygoteEarly adultN/A * 
abnormal eye morphology1 supporting datasetPnkpem1(IMPC)MbpheterozygoteEarly adultN/A * 
abnormal skin morphology1 supporting datasetPnkpem1(IMPC)MbpheterozygoteEarly adultN/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

Human diseases caused by Pnkp 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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Pnkpem1(IMPC)MbpInter-exon deletionmouse
Pnkptm1(NCOM)MfgcReporter-tagged deletion allele (with selection cassette)targeting vector
ES Cell
Pnkptm1a(EUCOMM)HmguKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
Pnkptm1a(EUCOMM)WtsiKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
Pnkptm1e(EUCOMM)HmguTargeted, non-conditional alleleES Cell
Pnkptm1e(EUCOMM)WtsiTargeted, non-conditional alleleES Cell

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