Mine Disruption Phenotype

Gene Info

  • Species:Mouse (Mus musculus)
  • GeneID:11477
  • Symbol:Acvr1
  • Description:activin A receptor, type 1
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Gene ID Entry Entry Name Protein Name Type Information
11477 P37172 ACVR1_MOUSE Activin receptor type-1 (EC 2.7.11.30) (Activin receptor type I) (ACTR-I) (Serine/threonine-protein kinase receptor R1) (SKR1) (TGF-B superfamily receptor type I) (TSR-I) (TSK-7L) DISRUPTION PHENOTYPE Deletion mutants show a recessive embryonic lethality. At 7.0 dpc, mutant embryos did not show any special abnormalities except a smaller size. However, at 8.0 dpc, mesoderm formation is initiated but its development is arrested around the mid/late streak stage (PubMed:10479450). In an osteoblast-specific manner loss of BMP signaling via ACVR1 directs osteoblasts to increase endogenous bone mass (PubMed:21945937). Additionally, mice lacking ACVR1 in cartilage show reduced SMAD responses, but also decreased p38 MAPK activation (PubMed:25413979). {ECO:0000269|PubMed:10479450, ECO:0000269|PubMed:21945937, ECO:0000269|PubMed:25413979}.