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 renal tubule morphology_Hba<tm1(HBA)Tow>/Hba<tm1(HBA)Tow>,Hbb<tm2(HBG1,HBB*)Tow>/Hbb<tm2(HBG1,HBB*)Tow>,Slc12a4<Rbc10>/Slc12a4<+>

表現型アノテーション

MGI marker

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

• solute carrier family 12, member 4
  http://metadb.riken.jp/db/mgi_rdf/MGI:1309465
• hemoglobin alpha chain complex
  http://metadb.riken.jp/db/mgi_rdf/MGI:96014
• hemoglobin beta chain complex
  http://metadb.riken.jp/db/mgi_rdf/MGI:96020

遺伝子型

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

• Hba<tm1(HBA)Tow>/Hba<tm1(HBA)Tow>,Hbb<tm2(HBG1,HBB*)Tow>/Hbb<tm2(HBG1,HBB*)Tow>,Slc12a4<Rbc10>/Slc12a4<+>

アレルシンボル

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

• Slc12a4<+>|Hba<tm1(HBA)Tow>|Slc12a4<Rbc10>|Hbb<tm2(HBG1,HBB*)Tow>

遺伝的背景

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

• involves: 129 * BALB/c * C57BL/6J

MP annotation

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

• abnormal renal tubule morphology
  http://purl.obolibrary.org/obo/MP_0002703

文献

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

• 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