Xiangjian. Zheng, et.al., Dynamic regulation of the cerebral cavernous malformation pathway controls vascular stability and growth., Developmental cell, 2012, 23

http://rdf.ncbi.nlm.nih.gov/pubmed/22898778

Xiangjian. Zheng, et.al., Dynamic regulation of the cerebral cavernous malformation pathway controls vascular stability and growth., Developmental cell, 2012, 23

pubmed

allele

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

• Ccm2<tm1Mlkn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5439490
• Ccm2l<tm1Mlkn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5439489
• Heg1<tm2.1Mlkn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5439491

class

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

• Ccm2<tm1Mlkn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5439490
• Ccm2l<tm1Mlkn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5439489
• Heg1<tm2.1Mlkn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5439491

表現型アノテーション

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

• embryonic lethality during organogenesis, complete penetrance_Ccm2l<tm1Mlkn>/Ccm2l<tm1Mlkn>,Heg1<tm1Mlkn>/Heg1<tm1Mlkn>
  http://metadb.riken.jp/0011098I129C57BL6Ccm2ltm1MlknCcm2ltm1MlknHeg1tm1MlknHeg1tm1MlknHeg1tm1MlknCcm2ltm1Mlkn
• decreased tumor growth/size_Ccm2l<tm1Mlkn>/Ccm2l<tm1Mlkn>
  http://metadb.riken.jp/0003447I129C57BL6Ccm2ltm1MlknCcm2ltm1MlknCcm2ltm1Mlkn
• no abnormal phenotype detected_Ccm2l<tm1Mlkn>/Ccm2l<tm1Mlkn>,Ccm2<Gt(RRG051)Byg>/Ccm2<+>
  http://metadb.riken.jp/0002169I129129P2OlaHsdC57BL6Ccm2ltm1MlknCcm2ltm1MlknCcm2GtRRG051BygCcm2Ccm2ltm1MlknCcm2Ccm2GtRRG051Byg
• embryonic lethality during organogenesis, complete penetrance_Ccm2<Gt(RRG051)Byg>/Ccm2<+>,Heg1<tm1Mlkn>/Heg1<tm1Mlkn>
  http://metadb.riken.jp/0011098I129129P2OlaHsdC57BL6Ccm2GtRRG051BygCcm2Heg1tm1MlknHeg1tm1MlknHeg1tm1MlknCcm2GtRRG051BygCcm2
• thin myocardium_Ccm2l<tm1Mlkn>/Ccm2l<tm1Mlkn>,Heg1<tm1Mlkn>/Heg1<tm1Mlkn>
  http://metadb.riken.jp/0002652I129C57BL6Ccm2ltm1MlknCcm2ltm1MlknHeg1tm1MlknHeg1tm1MlknHeg1tm1MlknCcm2ltm1Mlkn
• abnormal pharyngeal arch artery morphology_Ccm2<Gt(RRG051)Byg>/Ccm2<+>,Heg1<tm1Mlkn>/Heg1<tm1Mlkn>
  http://metadb.riken.jp/0002672I129129P2OlaHsdC57BL6Ccm2GtRRG051BygCcm2Heg1tm1MlknHeg1tm1MlknHeg1tm1MlknCcm2GtRRG051BygCcm2
• embryonic lethality during organogenesis, complete penetrance_Ccm2l<tm1Mlkn>/Ccm2l<tm1Mlkn>,Heg1<tm1Mlkn>/Heg1<tm2.1Mlkn>,Tg(Tek-cre)1Ywa/0
  http://metadb.riken.jp/0011098I129C57BL6SJLCcm2ltm1MlknCcm2ltm1MlknHeg1tm1MlknHeg1tm21MlknTgTekcre1Ywa0TgTekcre1YwaHeg1tm21MlknHeg1tm1MlknCcm2ltm1Mlkn
• decreased sensitivity to induced morbidity/mortality_Ccm2l<tm1Mlkn>/Ccm2l<tm1Mlkn>
  http://metadb.riken.jp/0009764I129C57BL6Ccm2ltm1MlknCcm2ltm1MlknCcm2ltm1Mlkn
• decreased metastatic potential_Ccm2l<tm1Mlkn>/Ccm2l<tm1Mlkn>
  http://metadb.riken.jp/0001273I129C57BL6Ccm2ltm1MlknCcm2ltm1MlknCcm2ltm1Mlkn
• prenatal lethality, incomplete penetrance_Ccm2l<tm1Mlkn>/Ccm2l<tm1Mlkn>,Ccm2<tm1Mlkn>/Ccm2<+>,Heg1<tm1Mlkn>/Heg1<tm2.1Mlkn>,Tg(Tek-cre)1Ywa/0
  http://metadb.riken.jp/0011101I129C57BL6SJLCcm2ltm1MlknCcm2ltm1MlknCcm2tm1MlknCcm2Heg1tm1MlknHeg1tm21MlknTgTekcre1Ywa0TgTekcre1YwaCcm2Ccm2ltm1MlknCcm2tm1MlknHeg1tm1MlknHeg1tm21Mlkn
• delayed wound healing_Ccm2l<tm1Mlkn>/Ccm2l<tm1Mlkn>
  http://metadb.riken.jp/0002908I129C57BL6Ccm2ltm1MlknCcm2ltm1MlknCcm2ltm1Mlkn
• decreased ventricle muscle contractility_Ccm2l<tm1Mlkn>/Ccm2l<tm1Mlkn>,Heg1<tm1Mlkn>/Heg1<tm1Mlkn>
  http://metadb.riken.jp/0005598I129C57BL6Ccm2ltm1MlknCcm2ltm1MlknHeg1tm1MlknHeg1tm1MlknHeg1tm1MlknCcm2ltm1Mlkn
• trabecula carnea hypoplasia_Ccm2l<tm1Mlkn>/Ccm2l<tm1Mlkn>,Heg1<tm1Mlkn>/Heg1<tm1Mlkn>
  http://metadb.riken.jp/0000295I129C57BL6Ccm2ltm1MlknCcm2ltm1MlknHeg1tm1MlknHeg1tm1MlknHeg1tm1MlknCcm2ltm1Mlkn
• dilated heart atrium_Ccm2l<tm1Mlkn>/Ccm2l<tm1Mlkn>,Heg1<tm1Mlkn>/Heg1<tm1Mlkn>
  http://metadb.riken.jp/0003140I129C57BL6Ccm2ltm1MlknCcm2ltm1MlknHeg1tm1MlknHeg1tm1MlknHeg1tm1MlknCcm2ltm1Mlkn
• abnormal tumor vascularization_Ccm2l<tm1Mlkn>/Ccm2l<tm1Mlkn>
  http://metadb.riken.jp/0010144I129C57BL6Ccm2ltm1MlknCcm2ltm1MlknCcm2ltm1Mlkn
• thin myocardium_Ccm2l<tm1Mlkn>/Ccm2l<tm1Mlkn>,Heg1<tm1Mlkn>/Heg1<tm2.1Mlkn>,Tg(Tek-cre)1Ywa/0
  http://metadb.riken.jp/0002652I129C57BL6SJLCcm2ltm1MlknCcm2ltm1MlknHeg1tm1MlknHeg1tm21MlknTgTekcre1Ywa0TgTekcre1YwaHeg1tm21MlknHeg1tm1MlknCcm2ltm1Mlkn
• abnormal cardiovascular development_Ccm2l<tm1Mlkn>/Ccm2l<tm1Mlkn>,Ccm2<Gt(RRG051)Byg>/Ccm2<+>,Heg1<tm1Mlkn>/Heg1<tm1Mlkn>
  http://metadb.riken.jp/0002925I129129P2OlaHsdC57BL6Ccm2ltm1MlknCcm2ltm1MlknCcm2GtRRG051BygCcm2Heg1tm1MlknHeg1tm1MlknCcm2GtRRG051BygCcm2Ccm2ltm1MlknHeg1tm1Mlkn
• prenatal lethality, incomplete penetrance_Ccm2l<tm1Mlkn>/Ccm2l<tm1Mlkn>,Ccm2<Gt(RRG051)Byg>/Ccm2<+>,Heg1<tm1Mlkn>/Heg1<tm1Mlkn>
  http://metadb.riken.jp/0011101I129129P2OlaHsdC57BL6Ccm2ltm1MlknCcm2ltm1MlknCcm2GtRRG051BygCcm2Heg1tm1MlknHeg1tm1MlknCcm2GtRRG051BygCcm2Ccm2ltm1MlknHeg1tm1Mlkn
• decreased fetal cardiomyocyte proliferation_Ccm2l<tm1Mlkn>/Ccm2l<tm1Mlkn>,Heg1<tm1Mlkn>/Heg1<tm1Mlkn>
  http://metadb.riken.jp/0011395I129C57BL6Ccm2ltm1MlknCcm2ltm1MlknHeg1tm1MlknHeg1tm1MlknHeg1tm1MlknCcm2ltm1Mlkn