neuron degeneration_Nhlrc1<tm1(KOMP)Vlcg>/Nhlrc1<tm1(KOMP)Vlcg>,Gys1<tm1a(EUCOMM)Wtsi>/Gys1<+>,Tg(Nes-cre)1Kag/?

http://metadb.riken.jp/0003224IC57BL6NTacNhlrc1tm1KOMPVlcgNhlrc1tm1KOMPVlcgGys1tm1aEUCOMMWtsiGys1TgNescre1KagTgNescre1KagNhlrc1tm1KOMPVlcgGys1tm1aEUCOMMWtsiGys1

neuron degeneration_Nhlrc1<tm1(KOMP)Vlcg>/Nhlrc1<tm1(KOMP)Vlcg>,Gys1<tm1a(EUCOMM)Wtsi>/Gys1<+>,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<+>,Tg(Nes-cre)1Kag/?

アレルシンボル

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

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

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

• neuron degeneration
  http://purl.obolibrary.org/obo/MP_0003224

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