Acvr2b | activin receptor IIB
Physiological systems
22 / 24 physiological systems tested
3 Significantly impacted by the knock-out
Growth/size/body region Mortality/aging Renal/urinary system
19 No significant impact
2 Not tested
Gene metrics:5Significant phenotypes
2Associated diseases
Expression examined in:73Adult tissues
29Embryo tissues
| preweaning lethality, complete penetrance | 1 supporting dataset | Acvr2btm1.1(KOMP)Vlcg | homozygote | Early adult | N/A * | ||
| enlarged kidney | 1 supporting dataset | Acvr2btm1.1(KOMP)Vlcg | heterozygote | Early adult | N/A * | ||
| abnormal kidney morphology | 1 supporting dataset | Acvr2btm1.1(KOMP)Vlcg | heterozygote | Early adult | N/A * | ||
| preweaning lethality, incomplete penetrance | 2 supporting datasets | Acvr2btm1.1(KOMP)Vlcg | homozygote | Early adult | N/A * | ||
| polycystic kidney | 1 supporting dataset | Acvr2btm1.1(KOMP)Vlcg | heterozygote | Early adult | N/A * |
| | | | | | | | | | |
| adrenal gland | heterozygote | n/a | 0% (0/2) | 0.7% (4/570) |
| aorta | heterozygote | n/a | 0% (0/2) | 0.19% (1/533) |
| blood | heterozygote | n/a | 0% (0/2) | 0% (0/17) |
| bone marrow | heterozygote | n/a | 0% (0/2) | 0% (0/22) |
| brain | heterozygote | n/a | 0% (0/2) | 0.86% (5/579) |
| brainstem | heterozygote | n/a | n/a | 0.41% (2/490) |
| brown adipose tissue | heterozygote | n/a | 0% (0/2) | 0% (0/588) |
| cartilage tissue | heterozygote | n/a | n/a | 0.22% (1/454) |
| cecum | heterozygote | n/a | 0% (0/2) | 7.75% (22/284) |
| cerebellum | heterozygote | n/a | 0% (0/2) | 0.56% (3/532) |
Human diseases caused by Acvr2b 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.
External links
No external links available for Acvr2b.
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