perimembraneous ventricular septal defect_Nfatc1<tm1.1(cre)Bz>/Nfatc1<+>,Smarca4<tm1.2Pcn>/Smarca4<tm1.2Pcn>

http://metadb.riken.jp/0010418I129S1Sv129S2SvPas129X1SvJNfatc1tm11creBzNfatc1Smarca4tm12PcnSmarca4tm12PcnNfatc1Smarca4tm12PcnNfatc1tm11creBz

perimembraneous ventricular septal defect_Nfatc1<tm1.1(cre)Bz>/Nfatc1<+>,Smarca4<tm1.2Pcn>/Smarca4<tm1.2Pcn>

表現型アノテーション

MGI marker

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

• SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
  http://metadb.riken.jp/db/mgi_rdf/MGI:88192
• nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:102469

遺伝子型

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

• Nfatc1<tm1.1(cre)Bz>/Nfatc1<+>,Smarca4<tm1.2Pcn>/Smarca4<tm1.2Pcn>

アレルシンボル

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

• Nfatc1<+>|Smarca4<tm1.2Pcn>|Nfatc1<tm1.1(cre)Bz>

遺伝的背景

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

• involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

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

• Brynn N. Akerberg, et.al., Endocardial Brg1 disruption illustrates the developmental origins of semilunar valve disease., Developmental biology, 2015, 407
  http://rdf.ncbi.nlm.nih.gov/pubmed/26100917