Acvr2a | activin receptor IIA
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
preweaning lethality, incomplete penetrance | 2 supporting datasets | Acvr2atm1.1(KOMP)Vlcg | homozygote | Early adult | N/A * | ||
microphthalmia | 1 supporting dataset | Acvr2atm1.1(KOMP)Vlcg | homozygote | E15.5 | N/A * | ||
abnormal behavior | 1 supporting dataset | Acvr2atm1.1(KOMP)Vlcg | heterozygote | Early adult | 9.04x10-5 | ||
abnormal embryo size | 1 supporting dataset | Acvr2atm1.1(KOMP)Vlcg | homozygote | E15.5 | N/A * | ||
anophthalmia | 1 supporting dataset | Acvr2atm1.1(KOMP)Vlcg | homozygote | E15.5 | N/A * | ||
decreased neutrophil cell number | 1 supporting dataset | Acvr2atm1.1(KOMP)Vlcg | heterozygote | Early adult | 9.4x10-7 | ||
increased thigmotaxis | 2 supporting datasets | Acvr2atm1.1(KOMP)Vlcg | heterozygote | Early adult | 9.04x10-5 | ||
decreased eosinophil cell number | 2 supporting datasets | Acvr2atm1.1(KOMP)Vlcg | heterozygote | Early adult | 2.15x10-5 | ||
abnormal craniofacial morphology | 1 supporting dataset | Acvr2atm1.1(KOMP)Vlcg | homozygote | E15.5 | N/A * |
| | | | | | | | | |
adrenal gland | heterozygote | n/a | 0% (0/2) | 0.7% (4/570) |
aorta | heterozygote | Section images | 100% (2/2) | 0.19% (1/533) |
brain | heterozygote | Section images | 100% (2/2) | 0.86% (5/579) |
brainstem | heterozygote | n/a | 100% (2/2) | 0.41% (2/490) |
brown adipose tissue | heterozygote | Section images | 100% (1/1) | 0% (0/588) |
cartilage tissue | heterozygote | n/a | 0% (0/2) | 0.22% (1/454) |
cerebellum | heterozygote | n/a | 100% (2/2) | 0.56% (3/532) |
cerebral cortex | heterozygote | n/a | 100% (2/2) | 0.41% (2/491) |
esophagus | heterozygote | n/a | 0% (0/2) | 1.67% (7/419) |
eye | heterozygote | Section images | 100% (2/2) | 0% (0/335) |
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.
This gene doesn't have any significant Histopathology hits. Click here to see the raw data
External links
No external links available for Acvr2a.
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Acvr2atm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | | ES Cell mouse |
Acvr2atm1(NCOM)Mfgc | Reporter-tagged deletion allele (with selection cassette) | | targeting vector ES Cell |
Acvr2atm1.1(KOMP)Vlcg | Reporter-tagged deletion allele (post Cre, with no selection cassette) | | mouse |
Acvr2atm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | | ES 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 |