Eleni. Douni, et.al., A RANKL G278R mutation causing osteopetrosis identifies a functional amino acid essential for trimer assembly in RANKL and TNF., Human molecular genetics, 2012, 21

http://rdf.ncbi.nlm.nih.gov/pubmed/22068587

Eleni. Douni, et.al., A RANKL G278R mutation causing osteopetrosis identifies a functional amino acid essential for trimer assembly in RANKL and TNF., Human molecular genetics, 2012, 21

pubmed

allele

http://purl.org/net/cito/citesAsAuthority

• Tnfsf11<tles>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5307891

class

http://purl.org/net/cito/citesAsAuthority

• Tnfsf11<tles>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5307891

表現型アノテーション

http://purl.org/net/cito/citesAsAuthority

• abnormal trabecular bone morphology_Tnfsf11<tles>/Tnfsf11<tm1Pngr>
  http://metadb.riken.jp/0000130I129P2OlaHsd129S6SvEvTacC57BL6JTnfsf11tlesTnfsf11tm1PngrTnfsf11tm1PngrTnfsf11tles
• increased bone trabecula number_Tnfsf11<tles>/Tnfsf11<tm1Pngr>
  http://metadb.riken.jp/0010868I129P2OlaHsd129S6SvEvTacC57BL6JTnfsf11tlesTnfsf11tm1PngrTnfsf11tm1PngrTnfsf11tles
• postnatal growth retardation_Tnfsf11<tles>/Tnfsf11<tles>
  http://metadb.riken.jp/0001732I129S6SvEvTacC57BL6JTnfsf11tlesTnfsf11tlesTnfsf11tles
• increased bone trabecula number_Tnfsf11<tles>/Tnfsf11<tles>
  http://metadb.riken.jp/0010868I129S6SvEvTacC57BL6JTnfsf11tlesTnfsf11tlesTnfsf11tles
• abnormal osteoblast physiology_Tnfsf11<tles>/Tnfsf11<tles>
  http://metadb.riken.jp/0005006I129S6SvEvTacC57BL6JTnfsf11tlesTnfsf11tlesTnfsf11tles
• increased bone mass_Tnfsf11<tles>/Tnfsf11<tm1Pngr>
  http://metadb.riken.jp/0005605I129P2OlaHsd129S6SvEvTacC57BL6JTnfsf11tlesTnfsf11tm1PngrTnfsf11tm1PngrTnfsf11tles
• abnormal trabecular bone morphology_Tnfsf11<tles>/Tnfsf11<tles>
  http://metadb.riken.jp/0000130I129S6SvEvTacC57BL6JTnfsf11tlesTnfsf11tlesTnfsf11tles
• failure of tooth eruption_Tnfsf11<tles>/Tnfsf11<tles>
  http://metadb.riken.jp/0000121I129S6SvEvTacC57BL6JTnfsf11tlesTnfsf11tlesTnfsf11tles
• increased bone volume_Tnfsf11<tles>/Tnfsf11<tles>
  http://metadb.riken.jp/0010875I129S6SvEvTacC57BL6JTnfsf11tlesTnfsf11tlesTnfsf11tles
• osteopetrosis_Tnfsf11<tles>/Tnfsf11<tles>
  http://metadb.riken.jp/0000067I129S6SvEvTacC57BL6JTnfsf11tlesTnfsf11tlesTnfsf11tles
• absent lymph nodes_Tnfsf11<tles>/Tnfsf11<tles>
  http://metadb.riken.jp/0008024I129S6SvEvTacC57BL6JTnfsf11tlesTnfsf11tlesTnfsf11tles
• premature death_Tnfsf11<tles>/Tnfsf11<tles>
  http://metadb.riken.jp/0002083I129S6SvEvTacC57BL6JTnfsf11tlesTnfsf11tlesTnfsf11tles
• osteopetrosis_Tnfsf11<tles>/Tnfsf11<tm1Pngr>
  http://metadb.riken.jp/0000067I129P2OlaHsd129S6SvEvTacC57BL6JTnfsf11tlesTnfsf11tm1PngrTnfsf11tm1PngrTnfsf11tles
• enlarged spleen_Tnfsf11<tles>/Tnfsf11<tles>
  http://metadb.riken.jp/0000691I129S6SvEvTacC57BL6JTnfsf11tlesTnfsf11tlesTnfsf11tles
• increased bone volume_Tnfsf11<tles>/Tnfsf11<tm1Pngr>
  http://metadb.riken.jp/0010875I129P2OlaHsd129S6SvEvTacC57BL6JTnfsf11tlesTnfsf11tm1PngrTnfsf11tm1PngrTnfsf11tles
• decreased osteoclast cell number_Tnfsf11<tles>/Tnfsf11<tles>
  http://metadb.riken.jp/0004985I129S6SvEvTacC57BL6JTnfsf11tlesTnfsf11tlesTnfsf11tles
• failure of tooth eruption_Tnfsf11<tles>/Tnfsf11<tm1Pngr>
  http://metadb.riken.jp/0000121I129P2OlaHsd129S6SvEvTacC57BL6JTnfsf11tlesTnfsf11tm1PngrTnfsf11tm1PngrTnfsf11tles
• decreased osteoclast cell number_Tnfsf11<tles>/Tnfsf11<tm1Pngr>
  http://metadb.riken.jp/0004985I129P2OlaHsd129S6SvEvTacC57BL6JTnfsf11tlesTnfsf11tm1PngrTnfsf11tm1PngrTnfsf11tles
• thymus hypoplasia_Tnfsf11<tles>/Tnfsf11<tles>
  http://metadb.riken.jp/0001823I129S6SvEvTacC57BL6JTnfsf11tlesTnfsf11tlesTnfsf11tles