Fiona C. Brown, et.al., Activation of the erythroid K-Cl cotransporter Kcc1 enhances sickle cell disease pathology in a humanized mouse model., Blood, 2015, 126

http://rdf.ncbi.nlm.nih.gov/pubmed/26450986

Fiona C. Brown, et.al., Activation of the erythroid K-Cl cotransporter Kcc1 enhances sickle cell disease pathology in a humanized mouse model., Blood, 2015, 126

pubmed

allele

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

• Slc12a4<Rbc10>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5703920

表現型アノテーション

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

• abnormal renal tubule morphology_Hba<tm1(HBA)Tow>/Hba<tm1(HBA)Tow>,Hbb<tm2(HBG1,HBB*)Tow>/Hbb<tm2(HBG1,HBB*)Tow>,Slc12a4<Rbc10>/Slc12a4<+>
  http://metadb.riken.jp/0002703I129BALBcC57BL6JHbatm1HBATowHbatm1HBATowHbbtm2HBG1HBBTowHbbtm2HBG1HBBTowSlc12a4Rbc10Slc12a4Slc12a4Hbatm1HBATowSlc12a4Rbc10Hbbtm2HBG1HBBTow
• abnormal liver morphology_Hba<tm1(HBA)Tow>/Hba<tm1(HBA)Tow>,Hbb<tm2(HBG1,HBB*)Tow>/Hbb<tm2(HBG1,HBB*)Tow>,Slc12a4<Rbc10>/Slc12a4<+>
  http://metadb.riken.jp/0000598I129BALBcC57BL6JHbatm1HBATowHbatm1HBATowHbbtm2HBG1HBBTowHbbtm2HBG1HBBTowSlc12a4Rbc10Slc12a4Slc12a4Hbatm1HBATowSlc12a4Rbc10Hbbtm2HBG1HBBTow
• abnormal erythrocyte physiology_Slc12a4<Rbc10>/Slc12a4<+>
  http://metadb.riken.jp/0003656IBALBcC57BL6JSlc12a4Rbc10Slc12a4Slc12a4Slc12a4Rbc10
• liver inflammation_Hba<tm1(HBA)Tow>/Hba<tm1(HBA)Tow>,Hbb<tm2(HBG1,HBB*)Tow>/Hbb<tm2(HBG1,HBB*)Tow>,Slc12a4<Rbc10>/Slc12a4<+>
  http://metadb.riken.jp/0001860I129BALBcC57BL6JHbatm1HBATowHbatm1HBATowHbbtm2HBG1HBBTowHbbtm2HBG1HBBTowSlc12a4Rbc10Slc12a4Slc12a4Hbatm1HBATowSlc12a4Rbc10Hbbtm2HBG1HBBTow
• reticulocytosis_Hba<tm1(HBA)Tow>/Hba<tm1(HBA)Tow>,Hbb<tm2(HBG1,HBB*)Tow>/Hbb<tm2(HBG1,HBB*)Tow>,Slc12a4<Rbc10>/Slc12a4<+>
  http://metadb.riken.jp/0002640I129BALBcC57BL6JHbatm1HBATowHbatm1HBATowHbbtm2HBG1HBBTowHbbtm2HBG1HBBTowSlc12a4Rbc10Slc12a4Slc12a4Hbatm1HBATowSlc12a4Rbc10Hbbtm2HBG1HBBTow
• enlarged spleen_Hba<tm1(HBA)Tow>/Hba<tm1(HBA)Tow>,Hbb<tm2(HBG1,HBB*)Tow>/Hbb<tm2(HBG1,HBB*)Tow>,Slc12a4<Rbc10>/Slc12a4<+>
  http://metadb.riken.jp/0000691I129BALBcC57BL6JHbatm1HBATowHbatm1HBATowHbbtm2HBG1HBBTowHbbtm2HBG1HBBTowSlc12a4Rbc10Slc12a4Slc12a4Hbatm1HBATowSlc12a4Rbc10Hbbtm2HBG1HBBTow
• abnormal erythrocyte physiology_Slc12a4<Rbc10>/Slc12a4<Rbc10>
  http://metadb.riken.jp/0003656IBALBcC57BL6JSlc12a4Rbc10Slc12a4Rbc10Slc12a4Rbc10
• premature death_Hba<tm1(HBA)Tow>/Hba<tm1(HBA)Tow>,Hbb<tm2(HBG1,HBB*)Tow>/Hbb<tm2(HBG1,HBB*)Tow>,Slc12a4<Rbc10>/Slc12a4<Rbc10>
  http://metadb.riken.jp/0002083I129BALBcC57BL6JHbatm1HBATowHbatm1HBATowHbbtm2HBG1HBBTowHbbtm2HBG1HBBTowSlc12a4Rbc10Slc12a4Rbc10Hbatm1HBATowSlc12a4Rbc10Hbbtm2HBG1HBBTow
• hypochromic anemia_Slc12a4<Rbc10>/Slc12a4<Rbc10>
  http://metadb.riken.jp/0008387IBALBcC57BL6JSlc12a4Rbc10Slc12a4Rbc10Slc12a4Rbc10
• premature death_Hba<tm1(HBA)Tow>/Hba<tm1(HBA)Tow>,Hbb<tm2(HBG1,HBB*)Tow>/Hbb<tm2(HBG1,HBB*)Tow>,Slc12a4<Rbc10>/Slc12a4<+>
  http://metadb.riken.jp/0002083I129BALBcC57BL6JHbatm1HBATowHbatm1HBATowHbbtm2HBG1HBBTowHbbtm2HBG1HBBTowSlc12a4Rbc10Slc12a4Slc12a4Hbatm1HBATowSlc12a4Rbc10Hbbtm2HBG1HBBTow
• abnormal pulmonary circulation_Hba<tm1(HBA)Tow>/Hba<tm1(HBA)Tow>,Hbb<tm2(HBG1,HBB*)Tow>/Hbb<tm2(HBG1,HBB*)Tow>,Slc12a4<Rbc10>/Slc12a4<+>
  http://metadb.riken.jp/0002295I129BALBcC57BL6JHbatm1HBATowHbatm1HBATowHbbtm2HBG1HBBTowHbbtm2HBG1HBBTowSlc12a4Rbc10Slc12a4Slc12a4Hbatm1HBATowSlc12a4Rbc10Hbbtm2HBG1HBBTow
• microcytic anemia_Hba<tm1(HBA)Tow>/Hba<tm1(HBA)Tow>,Hbb<tm2(HBG1,HBB*)Tow>/Hbb<tm2(HBG1,HBB*)Tow>,Slc12a4<Rbc10>/Slc12a4<+>
  http://metadb.riken.jp/0002810I129BALBcC57BL6JHbatm1HBATowHbatm1HBATowHbbtm2HBG1HBBTowHbbtm2HBG1HBBTowSlc12a4Rbc10Slc12a4Slc12a4Hbatm1HBATowSlc12a4Rbc10Hbbtm2HBG1HBBTow
• hepatic necrosis_Hba<tm1(HBA)Tow>/Hba<tm1(HBA)Tow>,Hbb<tm2(HBG1,HBB*)Tow>/Hbb<tm2(HBG1,HBB*)Tow>,Slc12a4<Rbc10>/Slc12a4<+>
  http://metadb.riken.jp/0001654I129BALBcC57BL6JHbatm1HBATowHbatm1HBATowHbbtm2HBG1HBBTowHbbtm2HBG1HBBTowSlc12a4Rbc10Slc12a4Slc12a4Hbatm1HBATowSlc12a4Rbc10Hbbtm2HBG1HBBTow
• microcytosis_Slc12a4<Rbc10>/Slc12a4<Rbc10>
  http://metadb.riken.jp/0002813IBALBcC57BL6JSlc12a4Rbc10Slc12a4Rbc10Slc12a4Rbc10
• mesangial cell hyperplasia_Hba<tm1(HBA)Tow>/Hba<tm1(HBA)Tow>,Hbb<tm2(HBG1,HBB*)Tow>/Hbb<tm2(HBG1,HBB*)Tow>,Slc12a4<Rbc10>/Slc12a4<+>
  http://metadb.riken.jp/0011427I129BALBcC57BL6JHbatm1HBATowHbatm1HBATowHbbtm2HBG1HBBTowHbbtm2HBG1HBBTowSlc12a4Rbc10Slc12a4Slc12a4Hbatm1HBATowSlc12a4Rbc10Hbbtm2HBG1HBBTow
• microcytosis_Slc12a4<Rbc10>/Slc12a4<+>
  http://metadb.riken.jp/0002813IBALBcC57BL6JSlc12a4Rbc10Slc12a4Slc12a4Slc12a4Rbc10
• microcytic anemia_Hba<tm1(HBA)Tow>/Hba<tm1(HBA)Tow>,Hbb<tm2(HBG1,HBB*)Tow>/Hbb<tm3(HBG1,HBB)Tow>,Slc12a4<Rbc10>/Slc12a4<Rbc10>
  http://metadb.riken.jp/0002810I129BALBcC57BL6JHbatm1HBATowHbatm1HBATowHbbtm2HBG1HBBTowHbbtm3HBG1HBBTowSlc12a4Rbc10Slc12a4Rbc10Hbbtm2HBG1HBBTowHbbtm3HBG1HBBTowSlc12a4Rbc10Hbatm1HBATow
• preweaning lethality, incomplete penetrance_Hba<tm1(HBA)Tow>/Hba<tm1(HBA)Tow>,Hbb<tm2(HBG1,HBB*)Tow>/Hbb<tm2(HBG1,HBB*)Tow>,Slc12a4<Rbc10>/Slc12a4<Rbc10>
  http://metadb.riken.jp/0011110I129BALBcC57BL6JHbatm1HBATowHbatm1HBATowHbbtm2HBG1HBBTowHbbtm2HBG1HBBTowSlc12a4Rbc10Slc12a4Rbc10Hbatm1HBATowSlc12a4Rbc10Hbbtm2HBG1HBBTow
• abnormal lung morphology_Hba<tm1(HBA)Tow>/Hba<tm1(HBA)Tow>,Hbb<tm2(HBG1,HBB*)Tow>/Hbb<tm2(HBG1,HBB*)Tow>,Slc12a4<Rbc10>/Slc12a4<+>
  http://metadb.riken.jp/0001175I129BALBcC57BL6JHbatm1HBATowHbatm1HBATowHbbtm2HBG1HBBTowHbbtm2HBG1HBBTowSlc12a4Rbc10Slc12a4Slc12a4Hbatm1HBATowSlc12a4Rbc10Hbbtm2HBG1HBBTow
• abnormal erythrocyte physiology_Hba<tm1(HBA)Tow>/Hba<tm1(HBA)Tow>,Hbb<tm2(HBG1,HBB*)Tow>/Hbb<tm2(HBG1,HBB*)Tow>,Slc12a4<Rbc10>/Slc12a4<+>
  http://metadb.riken.jp/0003656I129BALBcC57BL6JHbatm1HBATowHbatm1HBATowHbbtm2HBG1HBBTowHbbtm2HBG1HBBTowSlc12a4Rbc10Slc12a4Slc12a4Hbatm1HBATowSlc12a4Rbc10Hbbtm2HBG1HBBTow

class

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

• Slc12a4<Rbc10>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5703920