Elapor1 | endosome-lysosome associated apoptosis and autophagy regulator 1

GeneMGI:1923930Synonyms: Iir, Inceptor, +1 more

Physiological systems

19 / 24 physiological systems tested

9 Significantly impacted by the knock-out

 Homeostasis/metabolism Immune system Limbs/digits/tail Vision/eye Hematopoietic system Behavior/neurological Skeleton Cardiovascular system Mortality/aging

10 No significant impact

5 Not tested

Data collections

LacZ expression
Histopathology
Images
How IMPC generates data
Gene metrics:9Significant phenotypes
0Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues

Phenotypes

abnormal retina vasculature morphology1 supporting datasetElapor1tm1b(EUCOMM)HmguheterozygoteEarly adult5.57x10-6 
abnormal retina blood vessel morphology1 supporting datasetElapor1tm1b(EUCOMM)HmguheterozygoteEarly adult4.44x10-6 
increased circulating glucose level1 supporting datasetElapor1tm1b(EUCOMM)HmguheterozygoteEarly adult4.78x10-5 
increased fluid intake1 supporting datasetElapor1tm1b(EUCOMM)HmguheterozygoteEarly adult2.12x10-5 
short tibia2 supporting datasetsElapor1tm1b(EUCOMM)HmguheterozygoteEarly adult2.68x10-7 
abnormal vitreous body morphology1 supporting datasetElapor1tm1b(EUCOMM)HmguheterozygoteEarly adult7.03x10-6 
decreased exploration in new environment1 supporting datasetElapor1tm1b(EUCOMM)HmguheterozygoteEarly adult2.28x10-10 
preweaning lethality, incomplete penetrance1 supporting datasetElapor1tm1b(EUCOMM)HmguhomozygoteEarly adultN/A * 
decreased lymphocyte cell number1 supporting datasetElapor1tm1b(EUCOMM)HmguheterozygoteEarly adult7.96x10-5 
* 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 Elapor1 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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Elapor1tm1(KOMP)VlcgReporter-tagged deletion allele (with selection cassette)ES Cell
Elapor1tm1a(EUCOMM)HmguKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
mouse
Elapor1tm1b(EUCOMM)HmguReporter-tagged deletion allele (with selection cassette)mouse
Elapor1tm1e(EUCOMM)HmguTargeted, non-conditional alleleES Cell
Elapor1tm401(L1L2_gt0)KO first allele (reporter-tagged insertion with conditional potential)targeting vector

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