Acvr2a | activin receptor IIA

GeneMGI:102806Synonyms: Acvr2, tActRII, +1 more

Physiological systems

19 / 24 physiological systems tested

8 Significantly impacted by the knock-out

 Immune system Embryo Growth/size/body region Vision/eye Hematopoietic system Behavior/neurological Mortality/aging Craniofacial

11 No significant impact

5 Not tested

Gene metrics:9Significant phenotypes
0Associated diseases
Expression examined in:43Adult tissues
29Embryo tissues

Phenotypes

preweaning lethality, incomplete penetrance2 supporting datasetsAcvr2atm1.1(KOMP)VlcghomozygoteEarly adultN/A * 
microphthalmia1 supporting datasetAcvr2atm1.1(KOMP)VlcghomozygoteE15.5N/A * 
abnormal behavior1 supporting datasetAcvr2atm1.1(KOMP)VlcgheterozygoteEarly adult9.04x10-5 
abnormal embryo size1 supporting datasetAcvr2atm1.1(KOMP)VlcghomozygoteE15.5N/A * 
anophthalmia1 supporting datasetAcvr2atm1.1(KOMP)VlcghomozygoteE15.5N/A * 
decreased neutrophil cell number1 supporting datasetAcvr2atm1.1(KOMP)VlcgheterozygoteEarly adult9.4x10-7 
increased thigmotaxis2 supporting datasetsAcvr2atm1.1(KOMP)VlcgheterozygoteEarly adult9.04x10-5 
decreased eosinophil cell number2 supporting datasetsAcvr2atm1.1(KOMP)VlcgheterozygoteEarly adult2.15x10-5 
abnormal craniofacial morphology1 supporting datasetAcvr2atm1.1(KOMP)VlcghomozygoteE15.5N/A * 
* 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/a0% (0/2)0.7% (4/570)
aortaheterozygoteSection images
100% (2/2)0.19% (1/533)
brainheterozygoteSection images
100% (2/2)0.86% (5/579)
brainstemheterozygoten/a100% (2/2)0.41% (2/490)
brown adipose tissueheterozygoteSection images
100% (1/1)0% (0/588)
cartilage tissueheterozygoten/a0% (0/2)0.22% (1/454)
cerebellumheterozygoten/a100% (2/2)0.56% (3/532)
cerebral cortexheterozygoten/a100% (2/2)0.41% (2/491)
esophagusheterozygoten/a0% (0/2)1.67% (7/419)
eyeheterozygoteSection images
100% (2/2)0% (0/335)
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Human diseases caused by Acvr2a 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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Acvr2atm1(KOMP)VlcgReporter-tagged deletion allele (with selection cassette)ES Cell
mouse
Acvr2atm1(NCOM)MfgcReporter-tagged deletion allele (with selection cassette)targeting vector
ES Cell
Acvr2atm1.1(KOMP)VlcgReporter-tagged deletion allele (post Cre, with no selection cassette)mouse
Acvr2atm1e(EUCOMM)HmguTargeted, non-conditional alleleES Cell
Acvr2atm270449(L1L2_Bact_P)KO first allele (reporter-tagged insertion with conditional potential)targeting vector
Acvr2atm378905(L1L2_Bact_P)KO first allele (reporter-tagged insertion with conditional potential)targeting vector

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