abnormal skeletal muscle fiber morphology_Dysf<im>/Dysf<+>,Large1<myd>/Large1<myd>

http://metadb.riken.jp/0003084IC57BL6SJLJDysfimDysfLarge1mydLarge1mydDysfimLarge1mydDysf

abnormal skeletal muscle fiber morphology_Dysf<im>/Dysf<+>,Large1<myd>/Large1<myd>

表現型アノテーション

MGI marker

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

• dysferlin
  http://metadb.riken.jp/db/mgi_rdf/MGI:1349385
• LARGE xylosyl- and glucuronyltransferase 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:1342270

遺伝子型

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

• Dysf<im>/Dysf<+>,Large1<myd>/Large1<myd>

アレルシンボル

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

• Dysf<im>|Large1<myd>|Dysf<+>

遺伝的背景

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

• involves: C57BL/6 * SJL/J

MP annotation

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

• abnormal skeletal muscle fiber morphology
  http://purl.obolibrary.org/obo/MP_0003084

文献

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

• Motoi. Kanagawa, et.al., Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophy., PloS one, 2014, 9
  http://rdf.ncbi.nlm.nih.gov/pubmed/25198651