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

prenatal lethality, incomplete penetrance_Ccm2l<tm1Mlkn>/Ccm2l<tm1Mlkn>,Ccm2<tm1Mlkn>/Ccm2<+>,Heg1<tm1Mlkn>/Heg1<tm2.1Mlkn>,Tg(Tek-cre)1Ywa/0

表現型アノテーション

MGI marker

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

• cerebral cavernous malformation 2-like
  http://metadb.riken.jp/db/mgi_rdf/MGI:2385159
• transgene insertion 1, Masashi Yanagisawa
  http://metadb.riken.jp/db/mgi_rdf/MGI:2450309
• cerebral cavernous malformation 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:2384924
• heart development protein with EGF-like domains 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:1924696

遺伝子型

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

• Ccm2l<tm1Mlkn>/Ccm2l<tm1Mlkn>,Ccm2<tm1Mlkn>/Ccm2<+>,Heg1<tm1Mlkn>/Heg1<tm2.1Mlkn>,Tg(Tek-cre)1Ywa/0

アレルシンボル

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

• Tg(Tek-cre)1Ywa|Ccm2<+>|Ccm2l<tm1Mlkn>|Ccm2<tm1Mlkn>|Heg1<tm1Mlkn>|Heg1<tm2.1Mlkn>

遺伝的背景

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

• involves: 129 * C57BL/6 * SJL

MP annotation

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

• partial prenatal lethality
  http://purl.obolibrary.org/obo/MP_0011101

文献

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

• 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