Kpna2 | karyopherin subunit alpha 2

GeneMGI:103561Synonyms: pendulin, Rch1, +5 more

Physiological systems

22 / 24 physiological systems tested

9 Significantly impacted by the knock-out

 Homeostasis/metabolism Reproductive system Immune system Endocrine/exocrine gland Vision/eye Hematopoietic system Behavior/neurological Mortality/aging Renal/urinary system

13 No significant impact

2 Not tested

Gene metrics:12Significant phenotypes
0Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues

Phenotypes

abnormal testis morphology1 supporting datasetKpna2em1(IMPC)MbpheterozygoteEarly adultN/A * 
male infertility1 supporting datasetKpna2em1(IMPC)MbphomozygoteEarly adultN/A * 
abnormal cholesterol homeostasis1 supporting datasetKpna2em1(IMPC)MbpheterozygoteLate adult1.33x10-5 
no spontaneous movement1 supporting datasetKpna2em1(IMPC)MbpheterozygoteE18.5N/A * 
no spontaneous movement1 supporting datasetKpna2em1(IMPC)MbphomozygoteE18.5N/A * 
decreased locomotor activity2 supporting datasetsKpna2em1(IMPC)MbpheterozygoteEarly adult1.05x10-7 
preweaning lethality, incomplete penetrance3 supporting datasetsKpna2em1(IMPC)MbphomozygoteEarly adultN/A * 
small kidney1 supporting datasetKpna2em1(IMPC)MbpheterozygoteLate adultN/A * 
female infertility1 supporting datasetKpna2em1(IMPC)MbphomozygoteEarly adultN/A * 
abnormal spleen morphology1 supporting datasetKpna2em1(IMPC)MbpheterozygoteLate 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 Kpna2 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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Kpna2em1(IMPC)MbpExon Deletionmouse
Kpna2tm1(KOMP)VlcgReporter-tagged deletion allele (with selection cassette)ES Cell
Kpna2tm210408(L1L2_Bact_P)Reporter-tagged deletion allele (with selection cassette)targeting vector

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