trabecula carnea hypoplasia_Ccm2l<tm1Mlkn>/Ccm2l<tm1Mlkn>,Heg1<tm1Mlkn>/Heg1<tm1Mlkn>

http://metadb.riken.jp/0000295I129C57BL6Ccm2ltm1MlknCcm2ltm1MlknHeg1tm1MlknHeg1tm1MlknHeg1tm1MlknCcm2ltm1Mlkn

trabecula carnea hypoplasia_Ccm2l<tm1Mlkn>/Ccm2l<tm1Mlkn>,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

• cerebral cavernous malformation 2-like
  http://metadb.riken.jp/db/mgi_rdf/MGI:2385159
• 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>,Heg1<tm1Mlkn>/Heg1<tm1Mlkn>

アレルシンボル

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

• Heg1<tm1Mlkn>|Ccm2l<tm1Mlkn>

遺伝的背景

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

• involves: 129 * C57BL/6

MP annotation

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

• trabecula carnea hypoplasia
  http://purl.obolibrary.org/obo/MP_0000295

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