prenatal lethality, incomplete penetrance_Ttn<tm1.1Isrd>/Ttn<tm1.1Isrd>

http://metadb.riken.jp/0011101I129S2SvPasC57BL6Ttntm11IsrdTtntm11IsrdTtntm11Isrd

prenatal lethality, incomplete penetrance_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

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

遺伝子型

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

• Ttn<tm1.1Isrd>/Ttn<tm1.1Isrd>

アレルシンボル

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

• Ttn<tm1.1Isrd>

遺伝的背景

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

• involves: 129S2/SvPas * C57BL/6

MP annotation

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

• partial prenatal lethality
  http://purl.obolibrary.org/obo/MP_0011101

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