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

Karine. Charton, et.al., Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies., Human molecular genetics, 2010, 19

pubmed

allele

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

• Ttn<tm1.1Isrd>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4838322

class

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

• Ttn<tm1.1Isrd>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4838322

表現型アノテーション

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

• embryonic lethality during organogenesis, incomplete penetrance_Ttn<tm1.1Isrd>/Ttn<+>
  http://metadb.riken.jp/0011108I129S2SvPasC57BL6Ttntm11IsrdTtnTtnTtntm11Isrd
• abnormal M lines_Ttn<tm1.1Isrd>/Ttn<tm1.1Isrd>
  http://metadb.riken.jp/0004094I129S2SvPasC57BL6Ttntm11IsrdTtntm11IsrdTtntm11Isrd
• dystrophic muscle_Ttn<tm1.1Isrd>/Ttn<+>
  http://metadb.riken.jp/0000752I129S2SvPasC57BL6Ttntm11IsrdTtnTtnTtntm11Isrd
• dystrophic muscle_Capn3<tm1Jsb>/Capn3<+>,Ttn<tm1.1Isrd>/Ttn<tm1.1Isrd>
  http://metadb.riken.jp/0000752I129Sv129S2SvPasC57BL6Capn3tm1JsbCapn3Ttntm11IsrdTtntm11IsrdCapn3Ttntm11IsrdCapn3tm1Jsb
• skeletal muscle fiber necrosis_Ttn<tm1.1Isrd>/Ttn<tm1.1Isrd>
  http://metadb.riken.jp/0009414I129S2SvPasC57BL6Ttntm11IsrdTtntm11IsrdTtntm11Isrd
• prenatal lethality, incomplete penetrance_Ttn<tm1.1Isrd>/Ttn<tm1.1Isrd>
  http://metadb.riken.jp/0011101I129S2SvPasC57BL6Ttntm11IsrdTtntm11IsrdTtntm11Isrd
• centrally nucleated skeletal muscle fibers_Ttn<tm1.1Isrd>/Ttn<tm1.1Isrd>
  http://metadb.riken.jp/0009404I129S2SvPasC57BL6Ttntm11IsrdTtntm11IsrdTtntm11Isrd
• increased variability of skeletal muscle fiber size_Ttn<tm1.1Isrd>/Ttn<tm1.1Isrd>
  http://metadb.riken.jp/0009403I129S2SvPasC57BL6Ttntm11IsrdTtntm11IsrdTtntm11Isrd
• decreased ventricle muscle contractility_Ttn<tm1.1Isrd>/Ttn<tm1.1Isrd>
  http://metadb.riken.jp/0005598I129S2SvPasC57BL6Ttntm11IsrdTtntm11IsrdTtntm11Isrd
• increased left ventricle diastolic pressure_Ttn<tm1.1Isrd>/Ttn<tm1.1Isrd>
  http://metadb.riken.jp/0003819I129S2SvPasC57BL6Ttntm11IsrdTtntm11IsrdTtntm11Isrd
• embryonic lethality during organogenesis, incomplete penetrance_Ttn<tm1.1Isrd>/Ttn<tm1.1Isrd>
  http://metadb.riken.jp/0011108I129S2SvPasC57BL6Ttntm11IsrdTtntm11IsrdTtntm11Isrd
• abnormal hypaxial muscle morphology_Ttn<tm1.1Isrd>/Ttn<tm1.1Isrd>
  http://metadb.riken.jp/0003358I129S2SvPasC57BL6Ttntm11IsrdTtntm11IsrdTtntm11Isrd
• no abnormal phenotype detected_Capn3<tm1Jsb>/Capn3<+>,Ttn<tm1.1Isrd>/Ttn<+>
  http://metadb.riken.jp/0002169I129Sv129S2SvPasC57BL6Capn3tm1JsbCapn3Ttntm11IsrdTtnTtntm11IsrdCapn3tm1JsbTtnCapn3
• centrally nucleated skeletal muscle fibers_Capn3<tm1Jsb>/Capn3<+>,Ttn<tm1.1Isrd>/Ttn<tm1.1Isrd>
  http://metadb.riken.jp/0009404I129Sv129S2SvPasC57BL6Capn3tm1JsbCapn3Ttntm11IsrdTtntm11IsrdCapn3Ttntm11IsrdCapn3tm1Jsb
• impaired skeletal muscle contractility_Ttn<tm1.1Isrd>/Ttn<tm1.1Isrd>
  http://metadb.riken.jp/0002841I129S2SvPasC57BL6Ttntm11IsrdTtntm11IsrdTtntm11Isrd
• abnormal tibialis anterior morphology_Ttn<tm1.1Isrd>/Ttn<tm1.1Isrd>
  http://metadb.riken.jp/0003083I129S2SvPasC57BL6Ttntm11IsrdTtntm11IsrdTtntm11Isrd
• increased left ventricle systolic pressure_Ttn<tm1.1Isrd>/Ttn<tm1.1Isrd>
  http://metadb.riken.jp/0003820I129S2SvPasC57BL6Ttntm11IsrdTtntm11IsrdTtntm11Isrd
• abnormal hypaxial muscle morphology_Ttn<tm1.1Isrd>/Ttn<+>
  http://metadb.riken.jp/0003358I129S2SvPasC57BL6Ttntm11IsrdTtnTtnTtntm11Isrd
• abnormal gastrocnemius morphology_Ttn<tm1.1Isrd>/Ttn<tm1.1Isrd>
  http://metadb.riken.jp/0003082I129S2SvPasC57BL6Ttntm11IsrdTtntm11IsrdTtntm11Isrd
• abnormal skeletal muscle morphology_Ttn<tm1.1Isrd>/Ttn<tm1.1Isrd>
  http://metadb.riken.jp/0000759I129S2SvPasC57BL6Ttntm11IsrdTtntm11IsrdTtntm11Isrd
• myositis_Ttn<tm1.1Isrd>/Ttn<tm1.1Isrd>
  http://metadb.riken.jp/0004510I129S2SvPasC57BL6Ttntm11IsrdTtntm11IsrdTtntm11Isrd
• prenatal lethality, incomplete penetrance_Ttn<tm1.1Isrd>/Ttn<+>
  http://metadb.riken.jp/0011101I129S2SvPasC57BL6Ttntm11IsrdTtnTtnTtntm11Isrd
• abnormal tibialis anterior morphology_Ttn<tm1.1Isrd>/Ttn<+>
  http://metadb.riken.jp/0003083I129S2SvPasC57BL6Ttntm11IsrdTtnTtnTtntm11Isrd
• abnormal quadriceps morphology_Ttn<tm1.1Isrd>/Ttn<+>
  http://metadb.riken.jp/0010225I129S2SvPasC57BL6Ttntm11IsrdTtnTtnTtntm11Isrd
• dilated cardiomyopathy_Capn3<tm1Jsb>/Capn3<+>,Ttn<tm1.1Isrd>/Ttn<tm1.1Isrd>
  http://metadb.riken.jp/0002795I129Sv129S2SvPasC57BL6Capn3tm1JsbCapn3Ttntm11IsrdTtntm11IsrdCapn3Ttntm11IsrdCapn3tm1Jsb
• abnormal soleus morphology_Ttn<tm1.1Isrd>/Ttn<tm1.1Isrd>
  http://metadb.riken.jp/0003081I129S2SvPasC57BL6Ttntm11IsrdTtntm11IsrdTtntm11Isrd
• cardiac interstitial fibrosis_Ttn<tm1.1Isrd>/Ttn<tm1.1Isrd>
  http://metadb.riken.jp/0005608I129S2SvPasC57BL6Ttntm11IsrdTtntm11IsrdTtntm11Isrd
• dilated heart left ventricle_Ttn<tm1.1Isrd>/Ttn<tm1.1Isrd>
  http://metadb.riken.jp/0002753I129S2SvPasC57BL6Ttntm11IsrdTtntm11IsrdTtntm11Isrd
• dystrophic muscle_Ttn<tm1.1Isrd>/Ttn<tm1.1Isrd>
  http://metadb.riken.jp/0000752I129S2SvPasC57BL6Ttntm11IsrdTtntm11IsrdTtntm11Isrd
• dilated cardiomyopathy_Ttn<tm1.1Isrd>/Ttn<tm1.1Isrd>
  http://metadb.riken.jp/0002795I129S2SvPasC57BL6Ttntm11IsrdTtntm11IsrdTtntm11Isrd

トランスクリプトームデータ

http://rdf.ncbi.nlm.nih.gov/pubmed/

• CD27618
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD27618
• CD35923
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD35923