Aire | autoimmune regulator

Physiological systems

17 / 24 physiological systems tested

5 Significantly impacted by the knock-out

 Homeostasis/metabolism Immune system Nervous system Vision/eye Hematopoietic system

12 No significant impact

7 Not tested

Gene metrics:8Significant phenotypes
3Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues

Phenotypes

abnormal eye morphology2 supporting datasetsAiretm1.1(NCOM)MfgchomozygoteEarly adultN/A * 
increased monocyte cell number1 supporting datasetAiretm1.1(NCOM)MfgchomozygoteEarly adult7.59x10-5 
decreased prepulse inhibition2 supporting datasetsAiretm1.1(NCOM)MfgchomozygoteEarly adult1.53x10-5 
abnormal cholesterol homeostasis1 supporting datasetAiretm1.1(NCOM)MfgcheterozygoteEarly adult1.28x10-9 
abnormal retina morphology1 supporting datasetAiretm1.1(NCOM)MfgchomozygoteEarly adult4.67x10-6 
* 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 Aire 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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Airetm1(NCOM)MfgcReporter-tagged deletion allele (with selection cassette)targeting vector
ES Cell
mouse
Airetm1.1(NCOM)MfgcReporter-tagged deletion allele (post Cre, with no selection cassette)mouse
Airetm2a(EUCOMM)HmguKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
Airetm2e(EUCOMM)HmguTargeted, non-conditional alleleES Cell

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