Dhx40 | DEAH-box helicase 40

GeneMGI:1914737Synonyms: ARG147, DDX40, +1 more

Physiological systems

20 / 24 physiological systems tested

8 Significantly impacted by the knock-out

 Immune system Adipose tissue Growth/size/body region Vision/eye Hematopoietic system Behavior/neurological Skeleton Cardiovascular system

12 No significant impact

4 Not tested

Gene metrics:19Significant phenotypes
0Associated diseases
Expression examined in:49Adult tissues
0Embryo tissues

Phenotypes

increased total body fat amount1 supporting datasetDhx40tm1(NCOM)CmhdhomozygoteEarly adult5.11x10-8 
decreased hematocrit1 supporting datasetDhx40tm1b(KOMP)WtsihomozygoteEarly adult6.17x10-10 
decreased hemoglobin content1 supporting datasetDhx40tm1b(KOMP)WtsihomozygoteEarly adult1.67x10-14 
decreased total retina thickness1 supporting datasetDhx40tm1b(KOMP)WtsihomozygoteEarly adult9.39x10-7 
increased spleen weight1 supporting datasetDhx40tm1b(KOMP)WtsihomozygoteEarly adult7.04x10-5 
decreased locomotor activity1 supporting datasetDhx40tm1(NCOM)CmhdhomozygoteEarly adult9.94x10-5 
abnormal retina blood vessel morphology1 supporting datasetDhx40tm1b(KOMP)WtsihomozygoteEarly adult9.65x10-6 
abnormal bone mineralization1 supporting datasetDhx40tm1(NCOM)CmhdhomozygoteEarly adult3.6x10-6 
increased lean body mass1 supporting datasetDhx40tm1b(KOMP)WtsihomozygoteEarly adult1.82x10-5 
abnormal cornea morphology1 supporting datasetDhx40tm1b(KOMP)WtsihomozygoteEarly adult4.28x10-5 
* 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)
cecumheterozygoten/a0% (0/2)7.75% (22/284)
cerebellumheterozygoteWholemount images
100% (2/2)0.56% (3/532)
cerebral cortexheterozygoteWholemount images
100% (2/2)0.41% (2/491)
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Human diseases caused by Dhx40 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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Dhx40tm1(NCOM)CmhdReporter-tagged deletion allele (with selection cassette)targeting vector
ES Cell
Dhx40tm1a(KOMP)WtsiKO first allele (reporter-tagged insertion with conditional potential)targeting vector
ES Cell
mouse
Dhx40tm1b(KOMP)WtsiReporter-tagged deletion allele (with selection cassette)mouse
Dhx40tm1e(KOMP)WtsiTargeted, non-conditional alleleES Cell

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