Emg1 | EMG1 N1-specific pseudouridine methyltransferase

GeneMGI:1315195Synonyms: Grcc2f

Physiological systems

20 / 24 physiological systems tested

3 Significantly impacted by the knock-out

 Homeostasis/metabolism Vision/eye Mortality/aging

17 No significant impact

4 Not tested

Gene metrics:5Significant phenotypes
2Associated diseases
Expression examined in:50Adult tissues
62Embryo tissues

Phenotypes

decreased total retina thickness2 supporting datasetsEmg1tm1.1(KOMP)WtsiheterozygoteEarly adult4.59x10-7 
preweaning lethality, complete penetrance3 supporting datasetsEmg1tm1.1(KOMP)WtsihomozygoteEarly adultN/A * 
embryonic lethality prior to organogenesis1 supporting datasetEmg1tm1.1(KOMP)WtsihomozygoteE9.5N/A * 
abnormal retina inner nuclear layer morphology2 supporting datasetsEmg1tm1.1(KOMP)WtsiheterozygoteEarly adult1.26x10-6 
decreased circulating aspartate transaminase level1 supporting datasetEmg1tm1.1(KOMP)WtsiheterozygoteEarly adult1.46x10-5 
* 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 glandheterozygoteWholemount images
100% (2/2)0.7% (4/570)
aortaheterozygoteWholemount images
100% (2/2)0.19% (1/533)
boneheterozygoteWholemount images
100% (2/2)0% (0/394)
brainheterozygoteWholemount images
100% (2/2)0.86% (5/579)
brainstemheterozygoteWholemount images
100% (2/2)0.41% (2/490)
brown adipose tissueheterozygoten/a0% (0/2)0% (0/588)
cartilage tissueheterozygoteWholemount images
100% (2/2)0.22% (1/454)
cerebellumheterozygoteWholemount images
100% (2/2)0.56% (3/532)
cerebral cortexheterozygoteWholemount images
100% (2/2)0.41% (2/491)
esophagusheterozygoteWholemount images
100% (2/2)1.67% (7/419)
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Human diseases caused by Emg1 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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Emg1tm1(KOMP)VlcgReporter-tagged deletion allele (with selection cassette)ES Cell
Emg1tm1(KOMP)WtsiReporter-tagged deletion allele (with selection cassette)targeting vector
ES Cell
mouse
Emg1tm1.1(KOMP)WtsiReporter-tagged deletion allele (post Cre, with no selection cassette)mouse
Emg1tm1a(EUCOMM)HmguKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell

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