kidney collecting duct atrophy_Aqp2<cph>/Aqp2<cph>

http://metadb.riken.jp/0011844C57BL6JAqp2cphAqp2cphAqp2cphAqp2cph

kidney collecting duct atrophy_Aqp2<cph>/Aqp2<cph>

表現型アノテーション

MGI marker

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

• aquaporin 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:1096865

遺伝子型

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

• Aqp2<cph>/Aqp2<cph>

アレルシンボル

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

• Aqp2<cph>

遺伝的背景

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

• C57BL/6J-Aqp2<cph>

MP annotation

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

• kidney collecting duct atrophy
  http://purl.obolibrary.org/obo/MP_0011844

文献

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

• Bradley W. McDill, et.al., Congenital progressive hydronephrosis (cph) is caused by an S256L mutation in aquaporin-2 that affects its phosphorylation and apical membrane accumulation., Proceedings of the National Academy of Sciences of the United States of America, 2006, 103
  http://rdf.ncbi.nlm.nih.gov/pubmed/16641094