Monique. Jacoby, et.al., INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse., Nature genetics, 2009, 41

http://rdf.ncbi.nlm.nih.gov/pubmed/19668215

Monique. Jacoby, et.al., INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse., Nature genetics, 2009, 41

pubmed

allele

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

• Inpp5e<tm1Ssch>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4360185
• Inpp5e<tm1.1Ssch>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4360186
• Inpp5e<tm1.2Ssch>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4360187

class

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

• Inpp5e<tm1Ssch>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4360185
• Inpp5e<tm1.1Ssch>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4360186
• Inpp5e<tm1.2Ssch>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4360187

表現型アノテーション

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

• cleft palate_Inpp5e<tm1.2Ssch>/Inpp5e<tm1.2Ssch>
  http://metadb.riken.jp/0000111I129S1Sv129X1SvJInpp5etm12SschInpp5etm12SschInpp5etm12Ssch
• lethality throughout fetal growth and development, incomplete penetrance_Inpp5e<tm1.2Ssch>/Inpp5e<tm1.2Ssch>
  http://metadb.riken.jp/0011109I129S1Sv129X1SvJInpp5etm12SschInpp5etm12SschInpp5etm12Ssch
• abnormal metacarpal bone morphology_Inpp5e<tm1.2Ssch>/Inpp5e<tm1.2Ssch>
  http://metadb.riken.jp/0003073I129S1Sv129X1SvJInpp5etm12SschInpp5etm12SschInpp5etm12Ssch
• polycystic kidney_Inpp5e<tm1.2Ssch>/Inpp5e<tm1.2Ssch>
  http://metadb.riken.jp/0008528I129S1Sv129X1SvJInpp5etm12SschInpp5etm12SschInpp5etm12Ssch
• palatal shelves fail to meet at midline_Inpp5e<tm1.2Ssch>/Inpp5e<tm1.2Ssch>
  http://metadb.riken.jp/0009888I129S1Sv129X1SvJInpp5etm12SschInpp5etm12SschInpp5etm12Ssch
• exencephaly_Inpp5e<tm1.2Ssch>/Inpp5e<tm1.2Ssch>
  http://metadb.riken.jp/0000914I129S1Sv129X1SvJInpp5etm12SschInpp5etm12SschInpp5etm12Ssch
• kidney cortex cysts_Inpp5e<tm1.1Ssch>/Inpp5e<tm1.2Ssch>,Tg(CAG-cre/Esr1*)5Amc/0
  http://metadb.riken.jp/0000522I129S1Sv129X1SvJC57BL6CBAInpp5etm11SschInpp5etm12SschTgCAGcreEsr15Amc0Inpp5etm12SschTgCAGcreEsr15AmcInpp5etm11Ssch
• postaxial polydactyly_Inpp5e<tm1.2Ssch>/Inpp5e<tm1.2Ssch>
  http://metadb.riken.jp/0009744I129S1Sv129X1SvJInpp5etm12SschInpp5etm12SschInpp5etm12Ssch
• neonatal lethality, complete penetrance_Inpp5e<tm1.2Ssch>/Inpp5e<tm1.2Ssch>
  http://metadb.riken.jp/0011087I129S1Sv129X1SvJInpp5etm12SschInpp5etm12SschInpp5etm12Ssch
• anophthalmia_Inpp5e<tm1.2Ssch>/Inpp5e<tm1.2Ssch>
  http://metadb.riken.jp/0001293I129S1Sv129X1SvJInpp5etm12SschInpp5etm12SschInpp5etm12Ssch
• embryonic lethality during organogenesis, incomplete penetrance_Inpp5e<tm1.2Ssch>/Inpp5e<tm1.2Ssch>
  http://metadb.riken.jp/0011108I129S1Sv129X1SvJInpp5etm12SschInpp5etm12SschInpp5etm12Ssch
• palatal shelf hypoplasia_Inpp5e<tm1.2Ssch>/Inpp5e<tm1.2Ssch>
  http://metadb.riken.jp/0009883I129S1Sv129X1SvJInpp5etm12SschInpp5etm12SschInpp5etm12Ssch
• kidney cortex cysts_Inpp5e<tm1.2Ssch>/Inpp5e<tm1.2Ssch>
  http://metadb.riken.jp/0000522I129S1Sv129X1SvJInpp5etm12SschInpp5etm12SschInpp5etm12Ssch
• abnormal retinal photoreceptor layer morphology_Inpp5e<tm1.1Ssch>/Inpp5e<tm1.2Ssch>,Tg(CAG-cre/Esr1*)5Amc/0
  http://metadb.riken.jp/0003728I129S1Sv129X1SvJC57BL6CBAInpp5etm11SschInpp5etm12SschTgCAGcreEsr15Amc0Inpp5etm12SschTgCAGcreEsr15AmcInpp5etm11Ssch
• increased body weight_Inpp5e<tm1.1Ssch>/Inpp5e<tm1.2Ssch>,Tg(CAG-cre/Esr1*)5Amc/0
  http://metadb.riken.jp/0001260I129S1Sv129X1SvJC57BL6CBAInpp5etm11SschInpp5etm12SschTgCAGcreEsr15Amc0Inpp5etm12SschTgCAGcreEsr15AmcInpp5etm11Ssch
• abnormal phalanx morphology_Inpp5e<tm1.2Ssch>/Inpp5e<tm1.2Ssch>
  http://metadb.riken.jp/0005306I129S1Sv129X1SvJInpp5etm12SschInpp5etm12SschInpp5etm12Ssch
• abnormal renal glomerular capsule morphology_Inpp5e<tm1.2Ssch>/Inpp5e<tm1.2Ssch>
  http://metadb.riken.jp/0002828I129S1Sv129X1SvJInpp5etm12SschInpp5etm12SschInpp5etm12Ssch
• anencephaly_Inpp5e<tm1.2Ssch>/Inpp5e<tm1.2Ssch>
  http://metadb.riken.jp/0001890I129S1Sv129X1SvJInpp5etm12SschInpp5etm12SschInpp5etm12Ssch
• abnormal renal tubule epithelial cell primary cilium morphology_Inpp5e<tm1.2Ssch>/Inpp5e<tm1.2Ssch>
  http://metadb.riken.jp/0011066I129S1Sv129X1SvJInpp5etm12SschInpp5etm12SschInpp5etm12Ssch
• abnormal eye development_Inpp5e<tm1.2Ssch>/Inpp5e<tm1.2Ssch>
  http://metadb.riken.jp/0001286I129S1Sv129X1SvJInpp5etm12SschInpp5etm12SschInpp5etm12Ssch
• split sternum_Inpp5e<tm1.2Ssch>/Inpp5e<tm1.2Ssch>
  http://metadb.riken.jp/0004320I129S1Sv129X1SvJInpp5etm12SschInpp5etm12SschInpp5etm12Ssch
• abnormal cell morphology_Inpp5e<tm1.2Ssch>/Inpp5e<tm1.2Ssch>
  http://metadb.riken.jp/0000358I129S1Sv129X1SvJInpp5etm12SschInpp5etm12SschInpp5etm12Ssch
• delayed endochondral bone ossification_Inpp5e<tm1.2Ssch>/Inpp5e<tm1.2Ssch>
  http://metadb.riken.jp/0003419I129S1Sv129X1SvJInpp5etm12SschInpp5etm12SschInpp5etm12Ssch

トランスクリプトームデータ

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

• CD06037
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD06037