increased skeletal muscle glycogen level_Nhlrc1<tm1(KOMP)Vlcg>/Nhlrc1<tm1(KOMP)Vlcg>

http://metadb.riken.jp/0010401IC57BL6JC57BL6NTacNhlrc1tm1KOMPVlcgNhlrc1tm1KOMPVlcgNhlrc1tm1KOMPVlcg

increased skeletal muscle glycogen level_Nhlrc1<tm1(KOMP)Vlcg>/Nhlrc1<tm1(KOMP)Vlcg>

表現型アノテーション

MGI marker

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

• NHL repeat containing 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:2145264

遺伝子型

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

• Nhlrc1<tm1(KOMP)Vlcg>/Nhlrc1<tm1(KOMP)Vlcg>

アレルシンボル

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

• Nhlrc1<tm1(KOMP)Vlcg>

遺伝的背景

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

• involves: C57BL/6J * C57BL/6NTac

MP annotation

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

• increased skeletal muscle glycogen level
  http://purl.obolibrary.org/obo/MP_0010401

文献

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

• Anna A. DePaoli-Roach, et.al., Genetic depletion of the malin E3 ubiquitin ligase in mice leads to lafora bodies and the accumulation of insoluble laforin., The Journal of biological chemistry, 2010, 285
  http://rdf.ncbi.nlm.nih.gov/pubmed/20538597
• Jordi. Valles-Ortega, et.al., Neurodegeneration and functional impairments associated with glycogen synthase accumulation in a mouse model of Lafora disease., EMBO molecular medicine, 2011, 3
  http://rdf.ncbi.nlm.nih.gov/pubmed/21882344