Maria. Praggastis, et.al., A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele., The Journal of neuroscience : the official journal of the Society for Neuroscience, 2015, 35

http://rdf.ncbi.nlm.nih.gov/pubmed/26019327

Maria. Praggastis, et.al., A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele., The Journal of neuroscience : the official journal of the Society for Neuroscience, 2015, 35

pubmed

allele

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

• Npc1<tm1.1Dso>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5641735

class

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

• Npc1<tm1.1Dso>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5641735

表現型アノテーション

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

• abnormal hepatocyte morphology_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0000607BALBcNpc1m1NNpc1m1NNpc1m1NNpc1m1N
• increased liver cholesterol level_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0010027BALBcNpc1m1NNpc1m1NNpc1m1NNpc1m1N
• abnormal lipid homeostasis_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0002118B6CNpc1m1NNpc1m1NNpc1m1NNpc1m1N
• Purkinje cell degeneration_Npc1<tm1.1Dso>/Npc1<tm1.1Dso>
  http://metadb.riken.jp/0000876B6129Npc1tm11DsoNpc1tm11DsoNpc1tm11DsoNpc1tm11Dso
• abnormal sphingomyelin level_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0009823BALBcNpc1m1NNpc1m1NNpc1m1NNpc1m1N
• increased brain cholesterol level_Npc1<tm1.1Dso>/Npc1<+>
  http://metadb.riken.jp/0010162B6129Npc1tm11DsoNpc1tm11DsoNpc1Npc1Npc1tm11Dso
• abnormal lipid level_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0001547B6CNpc1m1NNpc1m1NNpc1m1NNpc1m1N
• increased macrophage derived foam cell number_Npc1<tm1.1Dso>/Npc1<tm1.1Dso>
  http://metadb.riken.jp/0004778B6129Npc1tm11DsoNpc1tm11DsoNpc1tm11DsoNpc1tm11Dso
• increased brain cholesterol level_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0010162BALBcNpc1m1NNpc1m1NNpc1m1NNpc1m1N
• abnormal cholesterol homeostasis_Npc1<tm1.1Dso>/Npc1<tm1.1Dso>
  http://metadb.riken.jp/0005278B6129Npc1tm11DsoNpc1tm11DsoNpc1tm11DsoNpc1tm11Dso
• abnormal microglial cell activation_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0010762BALBcNpc1m1NNpc1m1NNpc1m1NNpc1m1N
• premature death_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0002083BALBcNpc1m1NNpc1m1NNpc1m1NNpc1m1N
• abnormal macrophage morphology_Npc1<tm1.1Dso>/Npc1<tm1.1Dso>
  http://metadb.riken.jp/0002446B6129Npc1tm11DsoNpc1tm11DsoNpc1tm11DsoNpc1tm11Dso
• Purkinje cell degeneration_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0000876BALBcNpc1m1NNpc1m1NNpc1m1NNpc1m1N
• abnormal hepatocyte morphology_Npc1<tm1.1Dso>/Npc1<tm1.1Dso>
  http://metadb.riken.jp/0000607B6129Npc1tm11DsoNpc1tm11DsoNpc1tm11DsoNpc1tm11Dso
• decreased body weight_Npc1<tm1.1Dso>/Npc1<tm1.1Dso>
  http://metadb.riken.jp/0001262B6129Npc1tm11DsoNpc1tm11DsoNpc1tm11DsoNpc1tm11Dso
• astrocytosis_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0003354BALBcNpc1m1NNpc1m1NNpc1m1NNpc1m1N
• increased liver cholesterol level_Npc1<tm1.1Dso>/Npc1<tm1.1Dso>
  http://metadb.riken.jp/0010027B6129Npc1tm11DsoNpc1tm11DsoNpc1tm11DsoNpc1tm11Dso
• microgliosis_Npc1<tm1.1Dso>/Npc1<tm1.1Dso>
  http://metadb.riken.jp/0008918B6129Npc1tm11DsoNpc1tm11DsoNpc1tm11DsoNpc1tm11Dso
• abnormal lipid homeostasis_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0002118BALBcNpc1m1NNpc1m1NNpc1m1NNpc1m1N
• abnormal macrophage morphology_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0002446BALBcNpc1m1NNpc1m1NNpc1m1NNpc1m1N
• increased macrophage cell number_Npc1<tm1.1Dso>/Npc1<tm1.1Dso>
  http://metadb.riken.jp/0005425B6129Npc1tm11DsoNpc1tm11DsoNpc1tm11DsoNpc1tm11Dso
• abnormal lipid homeostasis_Npc1<tm1.1Dso>/Npc1<tm1.1Dso>
  http://metadb.riken.jp/0002118B6129Npc1tm11DsoNpc1tm11DsoNpc1tm11DsoNpc1tm11Dso
• abnormal Purkinje cell dendrite morphology_Npc1<tm1.1Dso>/Npc1<tm1.1Dso>
  http://metadb.riken.jp/0008572B6129Npc1tm11DsoNpc1tm11DsoNpc1tm11DsoNpc1tm11Dso
• abnormal Purkinje cell morphology_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0000877BALBcNpc1m1NNpc1m1NNpc1m1NNpc1m1N
• impaired coordination_Npc1<tm1.1Dso>/Npc1<tm1.1Dso>
  http://metadb.riken.jp/0001405B6129Npc1tm11DsoNpc1tm11DsoNpc1tm11DsoNpc1tm11Dso
• tremors_Npc1<tm1.1Dso>/Npc1<tm1.1Dso>
  http://metadb.riken.jp/0000745B6129Npc1tm11DsoNpc1tm11DsoNpc1tm11DsoNpc1tm11Dso
• abnormal Purkinje cell morphology_Npc1<tm1.1Dso>/Npc1<tm1.1Dso>
  http://metadb.riken.jp/0000877B6129Npc1tm11DsoNpc1tm11DsoNpc1tm11DsoNpc1tm11Dso
• axonal spheroids_Npc1<tm1.1Dso>/Npc1<tm1.1Dso>
  http://metadb.riken.jp/0010047B6129Npc1tm11DsoNpc1tm11DsoNpc1tm11DsoNpc1tm11Dso
• weight loss_Npc1<tm1.1Dso>/Npc1<tm1.1Dso>
  http://metadb.riken.jp/0001263B6129Npc1tm11DsoNpc1tm11DsoNpc1tm11DsoNpc1tm11Dso
• abnormal sphingolipid level_Npc1<tm1.1Dso>/Npc1<tm1.1Dso>
  http://metadb.riken.jp/0012230B6129Npc1tm11DsoNpc1tm11DsoNpc1tm11DsoNpc1tm11Dso
• premature death_Npc1<tm1.1Dso>/Npc1<tm1.1Dso>
  http://metadb.riken.jp/0002083B6129Npc1tm11DsoNpc1tm11DsoNpc1tm11DsoNpc1tm11Dso
• abnormal ceramide level_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0012232B6CNpc1m1NNpc1m1NNpc1m1NNpc1m1N
• abnormal ganglioside level_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0012231BALBcNpc1m1NNpc1m1NNpc1m1NNpc1m1N
• increased brain cholesterol level_Npc1<tm1.1Dso>/Npc1<tm1.1Dso>
  http://metadb.riken.jp/0010162B6129Npc1tm11DsoNpc1tm11DsoNpc1tm11DsoNpc1tm11Dso
• increased liver cholesterol level_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0010027B6CNpc1m1NNpc1m1NNpc1m1NNpc1m1N
• abnormal lipid level_Npc1<tm1.1Dso>/Npc1<tm1.1Dso>
  http://metadb.riken.jp/0001547B6129Npc1tm11DsoNpc1tm11DsoNpc1tm11DsoNpc1tm11Dso
• abnormal lipid level_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0001547BALBcNpc1m1NNpc1m1NNpc1m1NNpc1m1N
• abnormal microglial cell activation_Npc1<tm1.1Dso>/Npc1<tm1.1Dso>
  http://metadb.riken.jp/0010762B6129Npc1tm11DsoNpc1tm11DsoNpc1tm11DsoNpc1tm11Dso
• increased macrophage derived foam cell number_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0004778BALBcNpc1m1NNpc1m1NNpc1m1NNpc1m1N
• abnormal ganglioside level_Npc1<tm1.1Dso>/Npc1<tm1.1Dso>
  http://metadb.riken.jp/0012231B6129Npc1tm11DsoNpc1tm11DsoNpc1tm11DsoNpc1tm11Dso
• astrocytosis_Npc1<tm1.1Dso>/Npc1<tm1.1Dso>
  http://metadb.riken.jp/0003354B6129Npc1tm11DsoNpc1tm11DsoNpc1tm11DsoNpc1tm11Dso
• abnormal ceramide level_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0012232BALBcNpc1m1NNpc1m1NNpc1m1NNpc1m1N
• sphingomyelinosis_Npc1<tm1.1Dso>/Npc1<tm1.1Dso>
  http://metadb.riken.jp/0009589B6129Npc1tm11DsoNpc1tm11DsoNpc1tm11DsoNpc1tm11Dso
• abnormal ceramide level_Npc1<tm1.1Dso>/Npc1<tm1.1Dso>
  http://metadb.riken.jp/0012232B6129Npc1tm11DsoNpc1tm11DsoNpc1tm11DsoNpc1tm11Dso
• abnormal sphingomyelin level_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0009823B6CNpc1m1NNpc1m1NNpc1m1NNpc1m1N