abnormal seizure response to pharmacological agent_Nhlrc1<tm1(KOMP)Vlcg>/Nhlrc1<tm1(KOMP)Vlcg>,Gys1<tm1a(EUCOMM)Wtsi>/Gys1<tm1a(EUCOMM)Wtsi>,Tg(Nes-cre)1Kag/?

http://metadb.riken.jp/0000950IC57BL6NTacNhlrc1tm1KOMPVlcgNhlrc1tm1KOMPVlcgGys1tm1aEUCOMMWtsiGys1tm1aEUCOMMWtsiTgNescre1KagTgNescre1KagGys1tm1aEUCOMMWtsiNhlrc1tm1KOMPVlcg

abnormal seizure response to pharmacological agent_Nhlrc1<tm1(KOMP)Vlcg>/Nhlrc1<tm1(KOMP)Vlcg>,Gys1<tm1a(EUCOMM)Wtsi>/Gys1<tm1a(EUCOMM)Wtsi>,Tg(Nes-cre)1Kag/?

表現型アノテーション

MGI marker

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

• glycogen synthase 1, muscle
  http://metadb.riken.jp/db/mgi_rdf/MGI:101805
• NHL repeat containing 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:2145264
• transgene insertion 1, Ryoichiro Kageyama
  http://metadb.riken.jp/db/mgi_rdf/MGI:2176221

遺伝子型

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

• Nhlrc1<tm1(KOMP)Vlcg>/Nhlrc1<tm1(KOMP)Vlcg>,Gys1<tm1a(EUCOMM)Wtsi>/Gys1<tm1a(EUCOMM)Wtsi>,Tg(Nes-cre)1Kag/?

アレルシンボル

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

• Tg(Nes-cre)1Kag|Gys1<tm1a(EUCOMM)Wtsi>|Nhlrc1<tm1(KOMP)Vlcg>

遺伝的背景

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

• involves: C57BL/6NTac

MP annotation

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

• abnormal seizure response to pharmacological agent
  http://purl.obolibrary.org/obo/MP_0000950

文献

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

• Jordi. Duran, et.al., Glycogen accumulation underlies neurodegeneration and autophagy impairment in Lafora disease., Human molecular genetics, 2014, 23
  http://rdf.ncbi.nlm.nih.gov/pubmed/24452334