abnormal renal tubule morphology_Kcnj10<tm1Lst>/Kcnj10<tm1Lst>

http://metadb.riken.jp/0002703I129S1SvKcnj10tm1LstKcnj10tm1LstKcnj10tm1Lst

abnormal renal tubule morphology_Kcnj10<tm1Lst>/Kcnj10<tm1Lst>

表現型アノテーション

MGI marker

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

• potassium inwardly-rectifying channel, subfamily J, member 10
  http://metadb.riken.jp/db/mgi_rdf/MGI:1194504

遺伝子型

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

• Kcnj10<tm1Lst>/Kcnj10<tm1Lst>

アレルシンボル

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

• Kcnj10<tm1Lst>

遺伝的背景

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

• involves: 129S1/Sv

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

• Detlef. Bockenhauer, et.al., Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations., The New England journal of medicine, 2009, 360
  http://rdf.ncbi.nlm.nih.gov/pubmed/19420365