http://rdf.ncbi.nlm.nih.gov/pubmed/18386809

http://rdf.ncbi.nlm.nih.gov/pubmed/18386809

Shashikant. Kulkarni, et.al., Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis., American journal of medical genetics. Part A, 2008, 146A

pubmed

表現型アノテーション

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

• postnatal lethality, complete penetrance_Chd2<Gt(RRBO46)Byg>/Chd2<Gt(RRBO46)Byg>
  http://metadb.riken.jp/0011085I129P2OlaHsdC57BL6JChd2GtRRBO46BygChd2GtRRBO46BygChd2GtRRBO46Byg
• anophthalmia_Chd2<Gt(RRBO46)Byg>/Chd2<Gt(RRBO46)Byg>
  http://metadb.riken.jp/0001293I129P2OlaHsdC57BL6JChd2GtRRBO46BygChd2GtRRBO46BygChd2GtRRBO46Byg
• absent subcutaneous adipose tissue_Chd2<Gt(RRBO46)Byg>/Chd2<+>
  http://metadb.riken.jp/0008843I129P2OlaHsdC57BL6JChd2GtRRBO46BygChd2Chd2Chd2GtRRBO46Byg
• lordosis_Chd2<Gt(RRBO46)Byg>/Chd2<+>
  http://metadb.riken.jp/0000162I129P2OlaHsdC57BL6JChd2GtRRBO46BygChd2Chd2Chd2GtRRBO46Byg
• uterus cysts_Chd2<Gt(RRBO46)Byg>/Chd2<+>
  http://metadb.riken.jp/0009082I129P2OlaHsdC57BL6JChd2GtRRBO46BygChd2Chd2Chd2GtRRBO46Byg
• kyphosis_Chd2<Gt(RRBO46)Byg>/Chd2<+>
  http://metadb.riken.jp/0000160I129P2OlaHsdC57BL6JChd2GtRRBO46BygChd2Chd2Chd2GtRRBO46Byg
• preweaning lethality, incomplete penetrance_Chd2<Gt(RRBO46)Byg>/Chd2<+>
  http://metadb.riken.jp/0011110I129P2OlaHsdC57BL6JChd2GtRRBO46BygChd2Chd2Chd2GtRRBO46Byg
• enlarged heart atrium_Chd2<Gt(RRBO46)Byg>/Chd2<+>
  http://metadb.riken.jp/0008725I129P2OlaHsdC57BL6JChd2GtRRBO46BygChd2Chd2Chd2GtRRBO46Byg
• cortical renal glomerulopathies_Chd2<Gt(RRBO46)Byg>/Chd2<+>
  http://metadb.riken.jp/0000523I129P2OlaHsdC57BL6JChd2GtRRBO46BygChd2Chd2Chd2GtRRBO46Byg
• postnatal growth retardation_Chd2<Gt(RRBO46)Byg>/Chd2<+>
  http://metadb.riken.jp/0001732I129P2OlaHsdC57BL6JChd2GtRRBO46BygChd2Chd2Chd2GtRRBO46Byg
• endometrium hyperplasia_Chd2<Gt(RRBO46)Byg>/Chd2<+>
  http://metadb.riken.jp/0009092I129P2OlaHsdC57BL6JChd2GtRRBO46BygChd2Chd2Chd2GtRRBO46Byg
• lethality throughout fetal growth and development, incomplete penetrance_Chd2<Gt(RRBO46)Byg>/Chd2<Gt(RRBO46)Byg>
  http://metadb.riken.jp/0011109I129P2OlaHsdC57BL6JChd2GtRRBO46BygChd2GtRRBO46BygChd2GtRRBO46Byg
• decreased body size_Chd2<Gt(RRBO46)Byg>/Chd2<+>
  http://metadb.riken.jp/0001265I129P2OlaHsdC57BL6JChd2GtRRBO46BygChd2Chd2Chd2GtRRBO46Byg
• decreased body size_Chd2<Gt(RRBO46)Byg>/Chd2<Gt(RRBO46)Byg>
  http://metadb.riken.jp/0001265I129P2OlaHsdC57BL6JChd2GtRRBO46BygChd2GtRRBO46BygChd2GtRRBO46Byg
• abnormal blood vessel morphology_Chd2<Gt(RRBO46)Byg>/Chd2<+>
  http://metadb.riken.jp/0001614I129P2OlaHsdC57BL6JChd2GtRRBO46BygChd2Chd2Chd2GtRRBO46Byg
• abnormal eye morphology_Chd2<Gt(RRBO46)Byg>/Chd2<Gt(RRBO46)Byg>
  http://metadb.riken.jp/0002092I129P2OlaHsdC57BL6JChd2GtRRBO46BygChd2GtRRBO46BygChd2GtRRBO46Byg
• enlarged heart atrium_Chd2<Gt(RRBO46)Byg>/Chd2<Gt(RRBO46)Byg>
  http://metadb.riken.jp/0008725I129P2OlaHsdC57BL6JChd2GtRRBO46BygChd2GtRRBO46BygChd2GtRRBO46Byg
• pallor_Chd2<Gt(RRBO46)Byg>/Chd2<Gt(RRBO46)Byg>
  http://metadb.riken.jp/0003717I129P2OlaHsdC57BL6JChd2GtRRBO46BygChd2GtRRBO46BygChd2GtRRBO46Byg
• decreased subcutaneous adipose tissue amount_Chd2<Gt(RRBO46)Byg>/Chd2<+>
  http://metadb.riken.jp/0008844I129P2OlaHsdC57BL6JChd2GtRRBO46BygChd2Chd2Chd2GtRRBO46Byg

トランスクリプトームデータ

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

• CD23478
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD23478