abnormal enzyme/coenzyme level_Npc1<m1N>/Npc1<m1N>,Tg(PRNP-APPSweInd)8Dwst/0

http://metadb.riken.jp/0005319IBALBcC3HHeJC57BL6JNpc1m1NNpc1m1NTgPRNPAPPSweInd8Dwst0Npc1m1NTgPRNPAPPSweInd8Dwst

abnormal enzyme/coenzyme level_Npc1<m1N>/Npc1<m1N>,Tg(PRNP-APPSweInd)8Dwst/0

表現型アノテーション

MGI marker

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

• Niemann-Pick type C1
  http://metadb.riken.jp/db/mgi_rdf/MGI:1097712
• transgene insertion 8, David Westaway
  http://metadb.riken.jp/db/mgi_rdf/MGI:3590546

遺伝子型

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

• Npc1<m1N>/Npc1<m1N>,Tg(PRNP-APPSweInd)8Dwst/0

アレルシンボル

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

• Npc1<m1N>|Tg(PRNP-APPSweInd)8Dwst

遺伝的背景

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

• involves: BALB/c * C3H/HeJ * C57BL/6J

MP annotation

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

• abnormal enzyme/ coenzyme level
  http://purl.obolibrary.org/obo/MP_0005319

文献

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

• Mahua. Maulik, et.al., Mutant human APP exacerbates pathology in a mouse model of NPC and its reversal by a β-cyclodextrin., Human molecular genetics, 2012, 21
  http://rdf.ncbi.nlm.nih.gov/pubmed/22869680