Ell2 | elongation factor for RNA polymerase II 2

Physiological systems

18 / 24 physiological systems tested

3 Significantly impacted by the knock-out

 Homeostasis/metabolism Vision/eye Behavior/neurological

15 No significant impact

6 Not tested

Gene metrics:6Significant phenotypes
0Associated diseases
Expression examined in:45Adult tissues
0Embryo tissues

Phenotypes

increased grip strength4 supporting datasetsEll2tm1a(EUCOMM)WtsihomozygoteEarly adult8.24x10-8 
increased circulating alkaline phosphatase level1 supporting datasetEll2tm1b(EUCOMM)WtsihomozygoteEarly adult2.52x10-7 
abnormal retina morphology1 supporting datasetEll2tm1b(EUCOMM)WtsihomozygoteEarly adult3.34x10-5 
cataract1 supporting datasetEll2tm1b(EUCOMM)WtsihomozygoteEarly adult3.21x10-9 
abnormal lens morphology1 supporting datasetEll2tm1a(EUCOMM)WtsihomozygoteEarly adult1.3x10-9 
cataract1 supporting datasetEll2tm1a(EUCOMM)WtsihomozygoteEarly adult1.3x10-9 
increased circulating alkaline phosphatase level1 supporting datasetEll2tm1a(EUCOMM)WtsihomozygoteEarly adult2.4x10-5 
abnormal lens morphology1 supporting datasetEll2tm1b(EUCOMM)WtsihomozygoteEarly adult3.21x10-9 
decreased circulating serum albumin level1 supporting datasetEll2tm1a(EUCOMM)WtsihomozygoteEarly adult4.52x10-5 
* 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

adrenal glandheterozygoten/a50% (2/4)0.7% (4/570)
aortaheterozygoten/a100% (4/4)0.19% (1/533)
blood vesselheterozygoten/a50% (2/4)0% (0/173)
boneheterozygoten/a100% (2/2)0% (0/394)
brainheterozygoten/a50% (2/4)0.86% (5/579)
brainstemheterozygoten/a50% (2/4)0.41% (2/490)
brown adipose tissueheterozygoten/a50% (2/4)0% (0/588)
cartilage tissueheterozygoten/a100% (2/2)0.22% (1/454)
cerebellumheterozygoten/a50% (2/4)0.56% (3/532)
cerebral cortexheterozygoten/a50% (2/4)0.41% (2/491)
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Human diseases caused by Ell2 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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Ell2tm1a(EUCOMM)HmguKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
Ell2tm1a(EUCOMM)WtsiKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
mouse
Ell2tm1b(EUCOMM)WtsiReporter-tagged deletion allele (with selection cassette)mouse
Ell2tm1e(EUCOMM)HmguTargeted, non-conditional alleleES Cell
Ell2tm1e(EUCOMM)WtsiTargeted, non-conditional alleleES Cell

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