Yi-Fen. Lo, et.al., Severe metabolic acidosis causes early lethality in NBC1 W516X knock-in mice as a model of human isolated proximal renal tubular acidosis., Kidney international, 2011, 79

http://rdf.ncbi.nlm.nih.gov/pubmed/21228764

Yi-Fen. Lo, et.al., Severe metabolic acidosis causes early lethality in NBC1 W516X knock-in mice as a model of human isolated proximal renal tubular acidosis., Kidney international, 2011, 79

pubmed

allele

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

• Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5433857

class

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

• Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5433857

表現型アノテーション

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

• abnormal blood homeostasis_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0009642I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• decreased hemoglobin content_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0002874I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• abnormal urine homeostasis_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0009643I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• renal tubule atrophy_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0011346I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• abnormal blood circulation_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0002128I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• enlarged spleen_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0000691I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• postnatal lethality, complete penetrance_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0011085I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• reticulocytosis_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0002640I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• abnormal intestine physiology_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0010155I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• increased urine calcium level_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0005441I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• anemia_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0001577I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• increased spleen weight_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0004952I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• increased circulating calcium level_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0000194I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• decreased body size_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0001265I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• postnatal growth retardation_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0001732I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• decreased gastrocnemius weight_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0009422I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• decreased urine osmolality_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0002988I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• abnormal compact bone morphology_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0003797I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• uremia_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0009644I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• decreased urine pH_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0009350I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• increased long bone epiphyseal plate size_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0006398I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• acidemia_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0003030I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• increased circulating aldosterone level_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0002666I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• acidosis_Slc4a4<tm1.1Slin>/Slc4a4<+>
  http://metadb.riken.jp/0003031I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4Slc4a4tm11SlinSlc4a4
• acidosis_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0003031I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• abnormal intestine morphology_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0000477I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• dilated renal tubules_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0002705I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• abnormal renal tubule epithelium morphology_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0009640I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• acidemia_Slc4a4<tm1.1Slin>/Slc4a4<+>
  http://metadb.riken.jp/0003030I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4Slc4a4tm11SlinSlc4a4
• abnormal skeleton morphology_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0005508I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• increased circulating renin level_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0003352I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• corneal opacity_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0001314I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• decreased kidney weight_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0003918I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• abnormal renal reabsorbtion_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0010107I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• renal tubular acidosis_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0000525I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• increased urine sodium level_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0006316I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• decreased length of long bones_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0004686I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin
• edema_Slc4a4<tm1.1Slin>/Slc4a4<tm1.1Slin>
  http://metadb.riken.jp/0001785I129S1Sv129X1SvJC57BL6Slc4a4tm11SlinSlc4a4tm11SlinSlc4a4tm11Slin