Katherine. Stewart, et.al., A Point Mutation in p190A RhoGAP Affects Ciliogenesis and Leads to Glomerulocystic Kidney Defects., PLoS genetics, 2016, 12

http://rdf.ncbi.nlm.nih.gov/pubmed/26859289

Katherine. Stewart, et.al., A Point Mutation in p190A RhoGAP Affects Ciliogenesis and Leads to Glomerulocystic Kidney Defects., PLoS genetics, 2016, 12

pubmed

allele

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

• Arhgap35<m1Bchd>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5789382

表現型アノテーション

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

• abnormal neural tube closure_Arhgap35<m1Bchd>/Arhgap35<m1Bchd>
  http://metadb.riken.jp/0003720IC3HHeNCrlC57BL6JArhgap35m1BchdArhgap35m1BchdArhgap35m1Bchd
• spina bifida_Arhgap35<m1Bchd>/Arhgap35<m1Bchd>
  http://metadb.riken.jp/0003054IC3HHeNCrlC57BL6JArhgap35m1BchdArhgap35m1BchdArhgap35m1Bchd
• abnormal S-shaped body morphology_Arhgap35<m1Bchd>/Arhgap35<m1Bchd>
  http://metadb.riken.jp/0012026IC3HHeNCrlC57BL6JArhgap35m1BchdArhgap35m1BchdArhgap35m1Bchd
• exencephaly_Arhgap35<m1Bchd>/Arhgap35<tm1Jset>
  http://metadb.riken.jp/0000914I129S2SvPasC3HHeNCrlC57BL6JArhgap35m1BchdArhgap35tm1JsetArhgap35tm1JsetArhgap35m1Bchd
• exencephaly_Arhgap35<m1Bchd>/Arhgap35<m1Bchd>
  http://metadb.riken.jp/0000914IC3HHeNCrlC57BL6JArhgap35m1BchdArhgap35m1BchdArhgap35m1Bchd
• kidney cortex cysts_Arhgap35<m1Bchd>/Arhgap35<m1Bchd>
  http://metadb.riken.jp/0000522IC3HHeNCrlC57BL6JArhgap35m1BchdArhgap35m1BchdArhgap35m1Bchd
• perinatal lethality, incomplete penetrance_Arhgap35<m1Bchd>/Arhgap35<m1Bchd>
  http://metadb.riken.jp/0011090IC3HHeNCrlC57BL6JArhgap35m1BchdArhgap35m1BchdArhgap35m1Bchd
• abnormal kidney morphology_Arhgap35<tm1Jset>/Arhgap35<tm1Jset>
  http://metadb.riken.jp/0002135I129S2SvPasArhgap35tm1JsetArhgap35tm1JsetArhgap35tm1Jset
• abnormal cell morphology_Arhgap35<m1Bchd>/Arhgap35<m1Bchd>
  http://metadb.riken.jp/0000358IC3HHeNCrlC57BL6JArhgap35m1BchdArhgap35m1BchdArhgap35m1Bchd
• single kidney_Arhgap35<m1Bchd>/Arhgap35<m1Bchd>
  http://metadb.riken.jp/0003604IC3HHeNCrlC57BL6JArhgap35m1BchdArhgap35m1BchdArhgap35m1Bchd
• single kidney_Arhgap35<tm1Jset>/Arhgap35<tm1Jset>
  http://metadb.riken.jp/0003604I129S2SvPasArhgap35tm1JsetArhgap35tm1JsetArhgap35tm1Jset
• spina bifida_Arhgap35<m1Bchd>/Arhgap35<tm1Jset>
  http://metadb.riken.jp/0003054I129S2SvPasC3HHeNCrlC57BL6JArhgap35m1BchdArhgap35tm1JsetArhgap35tm1JsetArhgap35m1Bchd
• perinatal lethality, complete penetrance_Arhgap35<tm1Jset>/Arhgap35<tm1Jset>
  http://metadb.riken.jp/0011089I129S2SvPasArhgap35tm1JsetArhgap35tm1JsetArhgap35tm1Jset
• abnormal renal tubule epithelial cell primary cilium morphology_Arhgap35<m1Bchd>/Arhgap35<m1Bchd>
  http://metadb.riken.jp/0011066IC3HHeNCrlC57BL6JArhgap35m1BchdArhgap35m1BchdArhgap35m1Bchd
• dilated renal glomerular capsule_Arhgap35<m1Bchd>/Arhgap35<m1Bchd>
  http://metadb.riken.jp/0003670IC3HHeNCrlC57BL6JArhgap35m1BchdArhgap35m1BchdArhgap35m1Bchd
• single kidney_Arhgap35<m1Bchd>/Arhgap35<tm1Jset>
  http://metadb.riken.jp/0003604I129S2SvPasC3HHeNCrlC57BL6JArhgap35m1BchdArhgap35tm1JsetArhgap35tm1JsetArhgap35m1Bchd
• abnormal neural tube closure_Arhgap35<m1Bchd>/Arhgap35<tm1Jset>
  http://metadb.riken.jp/0003720I129S2SvPasC3HHeNCrlC57BL6JArhgap35m1BchdArhgap35tm1JsetArhgap35tm1JsetArhgap35m1Bchd
• postnatal lethality, complete penetrance_Arhgap35<m1Bchd>/Arhgap35<m1Bchd>
  http://metadb.riken.jp/0011085IC3HHeNCrlC57BL6JArhgap35m1BchdArhgap35m1BchdArhgap35m1Bchd
• dilated proximal convoluted tubules_Arhgap35<m1Bchd>/Arhgap35<m1Bchd>
  http://metadb.riken.jp/0009050IC3HHeNCrlC57BL6JArhgap35m1BchdArhgap35m1BchdArhgap35m1Bchd
• perinatal lethality, complete penetrance_Arhgap35<m1Bchd>/Arhgap35<tm1Jset>
  http://metadb.riken.jp/0011089I129S2SvPasC3HHeNCrlC57BL6JArhgap35m1BchdArhgap35tm1JsetArhgap35tm1JsetArhgap35m1Bchd
• exencephaly_Arhgap35<tm1Jset>/Arhgap35<tm1Jset>
  http://metadb.riken.jp/0000914I129S2SvPasArhgap35tm1JsetArhgap35tm1JsetArhgap35tm1Jset
• renal hypoplasia_Arhgap35<tm1Jset>/Arhgap35<tm1Jset>
  http://metadb.riken.jp/0003446I129S2SvPasArhgap35tm1JsetArhgap35tm1JsetArhgap35tm1Jset
• abnormal kidney morphology_Arhgap35<m1Bchd>/Arhgap35<tm1Jset>
  http://metadb.riken.jp/0002135I129S2SvPasC3HHeNCrlC57BL6JArhgap35m1BchdArhgap35tm1JsetArhgap35tm1JsetArhgap35m1Bchd
• spina bifida_Arhgap35<tm1Jset>/Arhgap35<tm1Jset>
  http://metadb.riken.jp/0003054I129S2SvPasArhgap35tm1JsetArhgap35tm1JsetArhgap35tm1Jset
• renal glomerulus cysts_Arhgap35<m1Bchd>/Arhgap35<m1Bchd>
  http://metadb.riken.jp/0011682IC3HHeNCrlC57BL6JArhgap35m1BchdArhgap35m1BchdArhgap35m1Bchd
• abnormal neural tube closure_Arhgap35<tm1Jset>/Arhgap35<tm1Jset>
  http://metadb.riken.jp/0003720I129S2SvPasArhgap35tm1JsetArhgap35tm1JsetArhgap35tm1Jset
• renal glomerulus cysts_Arhgap35<tm1Jset>/Arhgap35<tm1Jset>
  http://metadb.riken.jp/0011682I129S2SvPasArhgap35tm1JsetArhgap35tm1JsetArhgap35tm1Jset
• renal hypoplasia_Arhgap35<m1Bchd>/Arhgap35<tm1Jset>
  http://metadb.riken.jp/0003446I129S2SvPasC3HHeNCrlC57BL6JArhgap35m1BchdArhgap35tm1JsetArhgap35tm1JsetArhgap35m1Bchd
• abnormal kidney morphology_Arhgap35<m1Bchd>/Arhgap35<m1Bchd>
  http://metadb.riken.jp/0002135IC3HHeNCrlC57BL6JArhgap35m1BchdArhgap35m1BchdArhgap35m1Bchd
• renal glomerulus cysts_Arhgap35<m1Bchd>/Arhgap35<tm1Jset>
  http://metadb.riken.jp/0011682I129S2SvPasC3HHeNCrlC57BL6JArhgap35m1BchdArhgap35tm1JsetArhgap35tm1JsetArhgap35m1Bchd
• renal hypoplasia_Arhgap35<m1Bchd>/Arhgap35<m1Bchd>
  http://metadb.riken.jp/0003446IC3HHeNCrlC57BL6JArhgap35m1BchdArhgap35m1BchdArhgap35m1Bchd

class

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

• Arhgap35<m1Bchd>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5789382