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

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

pubmed

表現型アノテーション

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

• premature death_Npc1<m1N>/Npc1<m1N>,Tg(PRNP-APPSweInd)8Dwst/0
  http://metadb.riken.jp/0002083IBALBcC3HHeJC57BL6JNpc1m1NNpc1m1NTgPRNPAPPSweInd8Dwst0Npc1m1NTgPRNPAPPSweInd8Dwst
• increased brain cholesterol level_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0010162IBALBcC3HHeJC57BL6JNpc1m1NNpc1m1NNpc1m1N
• decreased body weight_Npc1<m1N>/Npc1<m1N>,Tg(PRNP-APPSweInd)8Dwst/0
  http://metadb.riken.jp/0001262IBALBcC3HHeJC57BL6JNpc1m1NNpc1m1NTgPRNPAPPSweInd8Dwst0Npc1m1NTgPRNPAPPSweInd8Dwst
• Purkinje cell degeneration_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0000876IBALBcC3HHeJC57BL6JNpc1m1NNpc1m1NNpc1m1N
• neurodegeneration_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0002229IBALBcC3HHeJC57BL6JNpc1m1NNpc1m1NNpc1m1N
• impaired coordination_Npc1<m1N>/Npc1<m1N>,Tg(PRNP-APPSweInd)8Dwst/0
  http://metadb.riken.jp/0001405IBALBcC3HHeJC57BL6JNpc1m1NNpc1m1NTgPRNPAPPSweInd8Dwst0Npc1m1NTgPRNPAPPSweInd8Dwst
• hypoactivity_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0001402IBALBcC3HHeJC57BL6JNpc1m1NNpc1m1NNpc1m1N
• increased brain cholesterol level_Npc1<m1N>/Npc1<m1N>,Tg(PRNP-APPSweInd)8Dwst/0
  http://metadb.riken.jp/0010162IBALBcC3HHeJC57BL6JNpc1m1NNpc1m1NTgPRNPAPPSweInd8Dwst0Npc1m1NTgPRNPAPPSweInd8Dwst
• microgliosis_Npc1<m1N>/Npc1<m1N>,Tg(PRNP-APPSweInd)8Dwst/0
  http://metadb.riken.jp/0008918IBALBcC3HHeJC57BL6JNpc1m1NNpc1m1NTgPRNPAPPSweInd8Dwst0Npc1m1NTgPRNPAPPSweInd8Dwst
• astrocytosis_Npc1<m1N>/Npc1<m1N>,Tg(PRNP-APPSweInd)8Dwst/0
  http://metadb.riken.jp/0003354IBALBcC3HHeJC57BL6JNpc1m1NNpc1m1NTgPRNPAPPSweInd8Dwst0Npc1m1NTgPRNPAPPSweInd8Dwst
• impaired coordination_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0001405IBALBcC3HHeJC57BL6JNpc1m1NNpc1m1NNpc1m1N
• neurodegeneration_Npc1<m1N>/Npc1<m1N>,Tg(PRNP-APPSweInd)8Dwst/0
  http://metadb.riken.jp/0002229IBALBcC3HHeJC57BL6JNpc1m1NNpc1m1NTgPRNPAPPSweInd8Dwst0Npc1m1NTgPRNPAPPSweInd8Dwst
• abnormal enzyme/coenzyme level_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0005319IBALBcC3HHeJC57BL6JNpc1m1NNpc1m1NNpc1m1N
• abnormal object recognition memory_Npc1<m1N>/Npc1<m1N>,Tg(PRNP-APPSweInd)8Dwst/0
  http://metadb.riken.jp/0001458IBALBcC3HHeJC57BL6JNpc1m1NNpc1m1NTgPRNPAPPSweInd8Dwst0Npc1m1NTgPRNPAPPSweInd8Dwst
• weight loss_Npc1<m1N>/Npc1<m1N>,Tg(PRNP-APPSweInd)8Dwst/0
  http://metadb.riken.jp/0001263IBALBcC3HHeJC57BL6JNpc1m1NNpc1m1NTgPRNPAPPSweInd8Dwst0Npc1m1NTgPRNPAPPSweInd8Dwst
• hypoactivity_Npc1<m1N>/Npc1<m1N>,Tg(PRNP-APPSweInd)8Dwst/0
  http://metadb.riken.jp/0001402IBALBcC3HHeJC57BL6JNpc1m1NNpc1m1NTgPRNPAPPSweInd8Dwst0Npc1m1NTgPRNPAPPSweInd8Dwst
• Purkinje cell degeneration_Npc1<m1N>/Npc1<m1N>,Tg(PRNP-APPSweInd)8Dwst/0
  http://metadb.riken.jp/0000876IBALBcC3HHeJC57BL6JNpc1m1NNpc1m1NTgPRNPAPPSweInd8Dwst0Npc1m1NTgPRNPAPPSweInd8Dwst
• premature death_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0002083IBALBcC3HHeJC57BL6JNpc1m1NNpc1m1NNpc1m1N
• demyelination_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0000921IBALBcC3HHeJC57BL6JNpc1m1NNpc1m1NNpc1m1N
• abnormal enzyme/coenzyme activity_Npc1<m1N>/Npc1<m1N>,Tg(PRNP-APPSweInd)8Dwst/0
  http://metadb.riken.jp/0005584IBALBcC3HHeJC57BL6JNpc1m1NNpc1m1NTgPRNPAPPSweInd8Dwst0Npc1m1NTgPRNPAPPSweInd8Dwst
• abnormal object recognition memory_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0001458IBALBcC3HHeJC57BL6JNpc1m1NNpc1m1NNpc1m1N
• microgliosis_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0008918IBALBcC3HHeJC57BL6JNpc1m1NNpc1m1NNpc1m1N
• demyelination_Npc1<m1N>/Npc1<m1N>,Tg(PRNP-APPSweInd)8Dwst/0
  http://metadb.riken.jp/0000921IBALBcC3HHeJC57BL6JNpc1m1NNpc1m1NTgPRNPAPPSweInd8Dwst0Npc1m1NTgPRNPAPPSweInd8Dwst
• abnormal enzyme/coenzyme level_Npc1<m1N>/Npc1<m1N>,Tg(PRNP-APPSweInd)8Dwst/0
  http://metadb.riken.jp/0005319IBALBcC3HHeJC57BL6JNpc1m1NNpc1m1NTgPRNPAPPSweInd8Dwst0Npc1m1NTgPRNPAPPSweInd8Dwst