abnormal cardiac muscle contractility_Ttn<tm2.1Mgot>/Ttn<tm2.1Mgot>

http://metadb.riken.jp/0002972I129S6SvEvTacC57BL6SJLTtntm21MgotTtntm21MgotTtntm21Mgot

abnormal cardiac muscle contractility_Ttn<tm2.1Mgot>/Ttn<tm2.1Mgot>

表現型アノテーション

MGI marker

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

• titin
  http://metadb.riken.jp/db/mgi_rdf/MGI:98864

遺伝子型

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

• Ttn<tm2.1Mgot>/Ttn<tm2.1Mgot>

アレルシンボル

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

• Ttn<tm2.1Mgot>

遺伝的背景

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

• involves: 129S6/SvEvTac * C57BL/6 * SJL

MP annotation

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

• abnormal cardiac muscle contractility
  http://purl.obolibrary.org/obo/MP_0002972

文献

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

• Henk L. Granzier, et.al., Truncation of titin's elastic PEVK region leads to cardiomyopathy with diastolic dysfunction., Circulation research, 2009, 105
  http://rdf.ncbi.nlm.nih.gov/pubmed/19679835