Michael M. Weinstein, et.al., Mice expressing mutant Trpv4 recapitulate the human TRPV4 disorders., Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2014, 29

http://rdf.ncbi.nlm.nih.gov/pubmed/24644033

Michael M. Weinstein, et.al., Mice expressing mutant Trpv4 recapitulate the human TRPV4 disorders., Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2014, 29

pubmed

allele

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

• Tg(Tyr,Col2a1-Trpv4*R594H)#Dhco
  http://metadb.riken.jp/db/mgi_rdf/MGI:5788532

表現型アノテーション

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

• abnormal carpal bone morphology_Tg(Tyr,Col2a1-Trpv4*R594H)#Dhco/0
  http://metadb.riken.jp/0000554IFVBNTgTyrCol2a1Trpv4R594HDhco0TgTyrCol2a1Trpv4R594HDhco
• decreased width of hypertrophic chondrocyte zone_Tg(Tyr,Col2a1-Trpv4*R594H)#Dhco/0
  http://metadb.riken.jp/0003409IFVBNTgTyrCol2a1Trpv4R594HDhco0TgTyrCol2a1Trpv4R594HDhco
• perinatal lethality, complete penetrance_Tg(Tyr,Col2a1-Trpv4*R594H)#Dhco/0
  http://metadb.riken.jp/0011089IFVBNTgTyrCol2a1Trpv4R594HDhco0TgTyrCol2a1Trpv4R594HDhco
• abnormal bone mineralization_Tg(Tyr,Col2a1-Trpv4*R594H)#Dhco/0
  http://metadb.riken.jp/0002896IFVBNTgTyrCol2a1Trpv4R594HDhco0TgTyrCol2a1Trpv4R594HDhco
• abnormal long bone diaphysis morphology_Tg(Tyr,Col2a1-Trpv4*R594H)#Dhco/0
  http://metadb.riken.jp/0004214IFVBNTgTyrCol2a1Trpv4R594HDhco0TgTyrCol2a1Trpv4R594HDhco
• abnormal phalanx morphology_Tg(Tyr,Col2a1-Trpv4*R594H)#Dhco/0
  http://metadb.riken.jp/0005306IFVBNTgTyrCol2a1Trpv4R594HDhco0TgTyrCol2a1Trpv4R594HDhco
• short snout_Tg(Tyr,Col2a1-Trpv4*R594H)#Dhco/0
  http://metadb.riken.jp/0000445IFVBNTgTyrCol2a1Trpv4R594HDhco0TgTyrCol2a1Trpv4R594HDhco
• decreased fetal size_Tg(Tyr,Col2a1-Trpv4*R594H)#Dhco/0
  http://metadb.riken.jp/0004200IFVBNTgTyrCol2a1Trpv4R594HDhco0TgTyrCol2a1Trpv4R594HDhco
• abnormal fluid regulation_Tg(Tyr,Col2a1-Trpv4*R594H)#Dhco/0
  http://metadb.riken.jp/0001784IFVBNTgTyrCol2a1Trpv4R594HDhco0TgTyrCol2a1Trpv4R594HDhco
• abnormal epiphyseal plate morphology_Tg(Tyr,Col2a1-Trpv4*R594H)#Dhco/0
  http://metadb.riken.jp/0006395IFVBNTgTyrCol2a1Trpv4R594HDhco0TgTyrCol2a1Trpv4R594HDhco
• thickened long bone epiphysis_Tg(Tyr,Col2a1-Trpv4*R594H)#Dhco/0
  http://metadb.riken.jp/0000132IFVBNTgTyrCol2a1Trpv4R594HDhco0TgTyrCol2a1Trpv4R594HDhco
• abnormal long bone epiphyseal plate proliferative zone_Tg(Tyr,Col2a1-Trpv4*R594H)#Dhco/0
  http://metadb.riken.jp/0003662IFVBNTgTyrCol2a1Trpv4R594HDhco0TgTyrCol2a1Trpv4R594HDhco
• abnormal skeleton morphology_Tg(Tyr,Col2a1-Trpv4*R594H)#Dhco/0
  http://metadb.riken.jp/0005508IFVBNTgTyrCol2a1Trpv4R594HDhco0TgTyrCol2a1Trpv4R594HDhco
• decreased length of long bones_Tg(Tyr,Col2a1-Trpv4*R594H)#Dhco/0
  http://metadb.riken.jp/0004686IFVBNTgTyrCol2a1Trpv4R594HDhco0TgTyrCol2a1Trpv4R594HDhco
• short limbs_Tg(Tyr,Col2a1-Trpv4*R594H)#Dhco/0
  http://metadb.riken.jp/0000547IFVBNTgTyrCol2a1Trpv4R594HDhco0TgTyrCol2a1Trpv4R594HDhco
• abnormal metacarpal bone morphology_Tg(Tyr,Col2a1-Trpv4*R594H)#Dhco/0
  http://metadb.riken.jp/0003073IFVBNTgTyrCol2a1Trpv4R594HDhco0TgTyrCol2a1Trpv4R594HDhco
• decreased bone mineralization_Tg(Tyr,Col2a1-Trpv4*R594H)#Dhco/0
  http://metadb.riken.jp/0020137IFVBNTgTyrCol2a1Trpv4R594HDhco0TgTyrCol2a1Trpv4R594HDhco
• midface hypoplasia_Tg(Tyr,Col2a1-Trpv4*R594H)#Dhco/0
  http://metadb.riken.jp/0012085IFVBNTgTyrCol2a1Trpv4R594HDhco0TgTyrCol2a1Trpv4R594HDhco
• failure of endochondral bone ossification_Tg(Tyr,Col2a1-Trpv4*R594H)#Dhco/0
  http://metadb.riken.jp/0008275IFVBNTgTyrCol2a1Trpv4R594HDhco0TgTyrCol2a1Trpv4R594HDhco
• abnormal lumbar vertebrae morphology_Tg(Tyr,Col2a1-Trpv4*R594H)#Dhco/0
  http://metadb.riken.jp/0003049IFVBNTgTyrCol2a1Trpv4R594HDhco0TgTyrCol2a1Trpv4R594HDhco
• short tail_Tg(Tyr,Col2a1-Trpv4*R594H)#Dhco/0
  http://metadb.riken.jp/0000592IFVBNTgTyrCol2a1Trpv4R594HDhco0TgTyrCol2a1Trpv4R594HDhco
• fused carpal bones_Tg(Tyr,Col2a1-Trpv4*R594H)#Dhco/0
  http://metadb.riken.jp/0008915IFVBNTgTyrCol2a1Trpv4R594HDhco0TgTyrCol2a1Trpv4R594HDhco

class

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

• Tg(Tyr,Col2a1-Trpv4*R594H)#Dhco
  http://metadb.riken.jp/db/mgi_rdf/MGI:5788532