abnormal myocardial fiber physiology_Casq2<tm1.1Sgp>/Casq2<tm1.1Sgp>

http://metadb.riken.jp/0004215I129X1SvJC57BL6NCrLCasq2tm11SgpCasq2tm11SgpCasq2tm11Sgp

abnormal myocardial fiber physiology_Casq2<tm1.1Sgp>/Casq2<tm1.1Sgp>

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<tm1.1Sgp>/Casq2<tm1.1Sgp>

アレルシンボル

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

• Casq2<tm1.1Sgp>

遺伝的背景

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

• involves: 129X1/SvJ * C57BL/6NCrL

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

• Nicoletta. Rizzi, et.al., Unexpected structural and functional consequences of the R33Q homozygous mutation in cardiac calsequestrin: a complex arrhythmogenic cascade in a knock in mouse model., Circulation research, 2008, 103
  http://rdf.ncbi.nlm.nih.gov/pubmed/18583715