dilated heart left ventricle_Scn5a<tm1(SCN5A)Rdn>/Scn5a<tm3(SCN5A*)Rdn>

http://metadb.riken.jp/0002753I129S6SvEvTacScn5atm1SCN5ARdnScn5atm3SCN5ARdnScn5atm3SCN5ARdnScn5atm1SCN5ARdn

dilated heart left ventricle_Scn5a<tm1(SCN5A)Rdn>/Scn5a<tm3(SCN5A*)Rdn>

表現型アノテーション

MGI marker

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

• sodium channel, voltage-gated, type V, alpha
  http://metadb.riken.jp/db/mgi_rdf/MGI:98251

遺伝子型

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

• Scn5a<tm1(SCN5A)Rdn>/Scn5a<tm3(SCN5A*)Rdn>

アレルシンボル

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

• Scn5a<tm3(SCN5A*)Rdn>|Scn5a<tm1(SCN5A)Rdn>

遺伝的背景

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

• involves: 129S6/SvEvTac

MP annotation

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

• dilated heart left ventricle
  http://purl.obolibrary.org/obo/MP_0002753

文献

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

• Hiroshi. Watanabe, et.al., Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro., Circulation, 2011, 124
  http://rdf.ncbi.nlm.nih.gov/pubmed/21824921