prenatal lethality, incomplete penetrance_Ccm2l<tm1Mlkn>/Ccm2l<tm1Mlkn>,Ccm2<Gt(RRG051)Byg>/Ccm2<+>,Heg1<tm1Mlkn>/Heg1<tm1Mlkn>

http://metadb.riken.jp/0011101I129129P2OlaHsdC57BL6Ccm2ltm1MlknCcm2ltm1MlknCcm2GtRRG051BygCcm2Heg1tm1MlknHeg1tm1MlknCcm2GtRRG051BygCcm2Ccm2ltm1MlknHeg1tm1Mlkn

prenatal lethality, incomplete penetrance_Ccm2l<tm1Mlkn>/Ccm2l<tm1Mlkn>,Ccm2<Gt(RRG051)Byg>/Ccm2<+>,Heg1<tm1Mlkn>/Heg1<tm1Mlkn>

表現型アノテーション

MGI marker

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

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

遺伝子型

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

• Ccm2l<tm1Mlkn>/Ccm2l<tm1Mlkn>,Ccm2<Gt(RRG051)Byg>/Ccm2<+>,Heg1<tm1Mlkn>/Heg1<tm1Mlkn>

アレルシンボル

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

• Ccm2<Gt(RRG051)Byg>|Ccm2<+>|Ccm2l<tm1Mlkn>|Heg1<tm1Mlkn>

遺伝的背景

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

• involves: 129 * 129P2/OlaHsd * C57BL/6

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