Erap1 | endoplasmic reticulum aminopeptidase 1

GeneMGI:1933403Synonyms: ERAAP, PILSAP, +1 more

Physiological systems

18 / 24 physiological systems tested

7 Significantly impacted by the knock-out

 Homeostasis/metabolism Adipose tissue Growth/size/body region Liver/biliary system Hematopoietic system Behavior/neurological Skeleton

11 No significant impact

6 Not tested

Data collections

LacZ expression
Histopathology
Images
How IMPC generates data
Gene metrics:8Significant phenotypes
1Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues

Phenotypes

abnormal liver morphology1 supporting datasetErap1tm2b(EUCOMM)WtsihomozygoteLate adultN/A * 
decreased bone mineral content2 supporting datasetsErap1tm2b(EUCOMM)WtsihomozygoteEarly adult1.69x10-5 
hyperactivity3 supporting datasetsErap1tm2b(EUCOMM)WtsihomozygoteLate adult1.38x10-7 
decreased total body fat amount1 supporting datasetErap1tm2b(EUCOMM)WtsihomozygoteLate adult8.43x10-5 
decreased circulating serum albumin level1 supporting datasetErap1tm2b(EUCOMM)WtsihomozygoteLate adult1.09x10-5 
increased circulating calcium level1 supporting datasetErap1tm2b(EUCOMM)WtsihomozygoteLate adult8.67x10-5 
thrombocytosis1 supporting datasetErap1tm2b(EUCOMM)WtsihomozygoteEarly adult4.33x10-5 
increased lean body mass1 supporting datasetErap1tm2b(EUCOMM)WtsihomozygoteLate adult7.2x10-7 
* 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 Erap1 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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Erap1tm1a(KOMP)WtsiKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
mouse
Erap1tm1e(KOMP)WtsiTargeted, non-conditional alleleES Cell
Erap1tm2a(EUCOMM)WtsiKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
mouse
Erap1tm2b(EUCOMM)WtsiReporter-tagged deletion allele (with selection cassette)mouse

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