osteopetrosis_Tnfsf11<tles>/Tnfsf11<tm1Pngr>

http://metadb.riken.jp/0000067I129P2OlaHsd129S6SvEvTacC57BL6JTnfsf11tlesTnfsf11tm1PngrTnfsf11tm1PngrTnfsf11tles

osteopetrosis_Tnfsf11<tles>/Tnfsf11<tm1Pngr>

表現型アノテーション

MGI marker

http://metadb.riken.jp/db/mgi_rdf/variant_of

• tumor necrosis factor (ligand) superfamily, member 11
  http://metadb.riken.jp/db/mgi_rdf/MGI:1100089

遺伝子型

http://metadb.riken.jp/db/mgi_rdf/allele_composition

• Tnfsf11<tles>/Tnfsf11<tm1Pngr>

アレルシンボル

http://metadb.riken.jp/db/mgi_rdf/allele_symbol

• Tnfsf11<tm1Pngr>|Tnfsf11<tles>

遺伝的背景

http://metadb.riken.jp/db/mgi_rdf/genetic_background

• involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J

MP annotation

http://metadb.riken.jp/db/bioresource_schema/brs_indicatesPhenotype

• osteopetrosis
  http://purl.obolibrary.org/obo/MP_0000067

文献

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

• 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