abnormal skeletal muscle fiber morphology_Sacs<tm1(NCOM)Mfgc>/Sacs<tm1(NCOM)Mfgc>

http://metadb.riken.jp/0003084NSSacstm1NCOMMfgcSacstm1NCOMMfgcSacstm1NCOMMfgc

abnormal skeletal muscle fiber morphology_Sacs<tm1(NCOM)Mfgc>/Sacs<tm1(NCOM)Mfgc>

表現型アノテーション

MGI marker

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

• sacsin
  http://metadb.riken.jp/db/mgi_rdf/MGI:1354724

遺伝子型

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

• Sacs<tm1(NCOM)Mfgc>/Sacs<tm1(NCOM)Mfgc>

アレルシンボル

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

• Sacs<tm1(NCOM)Mfgc>

遺伝的背景

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

• Not Specified

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

• Roxanne. Larivière, et.al., Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay., Human molecular genetics, 2015, 24
  http://rdf.ncbi.nlm.nih.gov/pubmed/25260547