impaired skeletal muscle contractility_Jph1<tm1Hta>/Jph1<tm1Hta>

http://metadb.riken.jp/0002841I129S4SvJaeC57BL6JJph1tm1HtaJph1tm1HtaJph1tm1Hta

impaired skeletal muscle contractility_Jph1<tm1Hta>/Jph1<tm1Hta>

表現型アノテーション

MGI marker

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

• junctophilin 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:1891495

遺伝子型

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

• Jph1<tm1Hta>/Jph1<tm1Hta>

アレルシンボル

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

• Jph1<tm1Hta>

遺伝的背景

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

• involves: 129S4/SvJae * C57BL/6J

MP annotation

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

• impaired skeletal muscle contractility
  http://purl.obolibrary.org/obo/MP_0002841

文献

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

• K. Ito, et.al., Deficiency of triad junction and contraction in mutant skeletal muscle lacking junctophilin type 1., The Journal of cell biology, 2001, 154
  http://rdf.ncbi.nlm.nih.gov/pubmed/11535622