dilated cardiomyopathy_Capn3<tm1Jsb>/Capn3<+>,Ttn<tm1.1Isrd>/Ttn<tm1.1Isrd>

http://metadb.riken.jp/0002795I129Sv129S2SvPasC57BL6Capn3tm1JsbCapn3Ttntm11IsrdTtntm11IsrdCapn3Ttntm11IsrdCapn3tm1Jsb

dilated cardiomyopathy_Capn3<tm1Jsb>/Capn3<+>,Ttn<tm1.1Isrd>/Ttn<tm1.1Isrd>

表現型アノテーション

MGI marker

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

• calpain 3
  http://metadb.riken.jp/db/mgi_rdf/MGI:107437
• titin
  http://metadb.riken.jp/db/mgi_rdf/MGI:98864

遺伝子型

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

• Capn3<tm1Jsb>/Capn3<+>,Ttn<tm1.1Isrd>/Ttn<tm1.1Isrd>

アレルシンボル

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

• Capn3<+>|Ttn<tm1.1Isrd>|Capn3<tm1Jsb>

遺伝的背景

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

• involves: 129/Sv * 129S2/SvPas * C57BL/6

MP annotation

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

• dilated cardiomyopathy
  http://purl.obolibrary.org/obo/MP_0002795

文献

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

• Karine. Charton, et.al., Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies., Human molecular genetics, 2010, 19
  http://rdf.ncbi.nlm.nih.gov/pubmed/20855473