ventricular septal defect_Hic2<Gt(E225A08)1.1Wrst>/Hic2<Gt(E225A08)1.1Wrst>,Nkx2-5<tm1(cre)Rjs>/Nkx2-5<+>

http://metadb.riken.jp/0010402I129P2OlaHsd129S7SvEvBrdHic2GtE225A0811WrstHic2GtE225A0811WrstNkx25tm1creRjsNkx25Nkx25Hic2GtE225A0811WrstNkx25tm1creRjs

ventricular septal defect_Hic2<Gt(E225A08)1.1Wrst>/Hic2<Gt(E225A08)1.1Wrst>,Nkx2-5<tm1(cre)Rjs>/Nkx2-5<+>

表現型アノテーション

MGI marker

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

• hypermethylated in cancer 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:1929869
• NK2 homeobox 5
  http://metadb.riken.jp/db/mgi_rdf/MGI:97350

遺伝子型

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

• Hic2<Gt(E225A08)1.1Wrst>/Hic2<Gt(E225A08)1.1Wrst>,Nkx2-5<tm1(cre)Rjs>/Nkx2-5<+>

アレルシンボル

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

• Nkx2-5<+>|Hic2<Gt(E225A08)1.1Wrst>|Nkx2-5<tm1(cre)Rjs>

遺伝的背景

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

• involves: 129P2/OlaHsd * 129S7/SvEvBrd

MP annotation

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

• ventricular septal defect
  http://purl.obolibrary.org/obo/MP_0010402

文献

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

• Iain M. Dykes, et.al., HIC2 is a novel dosage-dependent regulator of cardiac development located within the distal 22q11 deletion syndrome region., Circulation research, 2014, 115
  http://rdf.ncbi.nlm.nih.gov/pubmed/24748541