abnormal myocardial fiber physiology_Casq2<tm1Klmn>/Casq2<tm1Klmn>

http://metadb.riken.jp/0004215I129S1Sv129X1SvJC57BL6Casq2tm1KlmnCasq2tm1KlmnCasq2tm1Klmn

abnormal myocardial fiber physiology_Casq2<tm1Klmn>/Casq2<tm1Klmn>

表現型アノテーション

MGI marker

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

• calsequestrin 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:1309469

遺伝子型

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

• Casq2<tm1Klmn>/Casq2<tm1Klmn>

アレルシンボル

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

• Casq2<tm1Klmn>

遺伝的背景

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

• involves: 129S1/Sv * 129X1/SvJ * C57BL/6

MP annotation

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

• abnormal myocardial fiber physiology
  http://purl.obolibrary.org/obo/MP_0004215

文献

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

• Björn C. Knollmann, et.al., Casq2 deletion causes sarcoplasmic reticulum volume increase, premature Ca2+ release, and catecholaminergic polymorphic ventricular tachycardia., The Journal of clinical investigation, 2006, 116
  http://rdf.ncbi.nlm.nih.gov/pubmed/16932808