perimembraneous ventricular septal defect_Nkx2-5<tm1(cre)Rjs>/Nkx2-5<+>,Nsd2<tm1Ykan>/Nsd2<+>

http://metadb.riken.jp/0010418I129S2SvPas129S7SvEvBrdC57BL6Nkx25tm1creRjsNkx25Nsd2tm1YkanNsd2Nsd2Nsd2tm1YkanNkx25Nkx25tm1creRjs

perimembraneous ventricular septal defect_Nkx2-5<tm1(cre)Rjs>/Nkx2-5<+>,Nsd2<tm1Ykan>/Nsd2<+>

表現型アノテーション

MGI marker

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

• nuclear receptor binding SET domain protein 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:1276574
• 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

• Nkx2-5<tm1(cre)Rjs>/Nkx2-5<+>,Nsd2<tm1Ykan>/Nsd2<+>

アレルシンボル

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

• Nsd2<+>|Nsd2<tm1Ykan>|Nkx2-5<+>|Nkx2-5<tm1(cre)Rjs>

遺伝的背景

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

• involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6

MP annotation

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

• perimembraneous ventricular septal defect
  http://purl.obolibrary.org/obo/MP_0010418

文献

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

• Keisuke. Nimura, et.al., A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome., Nature, 2009, 460
  http://rdf.ncbi.nlm.nih.gov/pubmed/19483677