impaired skeletal muscle contractility_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>

http://metadb.riken.jp/0002841I129C57BL6JDestm11CcrsDestm11CcrsDestm11Ccrs

impaired skeletal muscle contractility_Des<tm1.1Ccrs>/Des<tm1.1Ccrs>

表現型アノテーション

MGI marker

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

• desmin
  http://metadb.riken.jp/db/mgi_rdf/MGI:94885

遺伝子型

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

• Des<tm1.1Ccrs>/Des<tm1.1Ccrs>

アレルシンボル

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

• Des<tm1.1Ccrs>

遺伝的背景

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

• involves: 129 * 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

• Christoph S. Clemen, et.al., The toxic effect of R350P mutant desmin in striated muscle of man and mouse., Acta neuropathologica, 2015, 129
  http://rdf.ncbi.nlm.nih.gov/pubmed/25394388