Robert A. Maue, et.al., A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations., Human molecular genetics, 2012, 21

http://rdf.ncbi.nlm.nih.gov/pubmed/22048958

Robert A. Maue, et.al., A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations., Human molecular genetics, 2012, 21

pubmed

表現型アノテーション

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

• increased liver cholesterol level_Npc1<nmf164>/Npc1<nmf164>
  http://metadb.riken.jp/0010027C57BL6JNpc1nmf164JNpc1nmf164Npc1nmf164Npc1nmf164
• impaired coordination_Npc1<nmf164>/Npc1<nmf164>
  http://metadb.riken.jp/0001405C57BL6JNpc1nmf164JNpc1nmf164Npc1nmf164Npc1nmf164
• lethality, incomplete penetrance_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0010831BALBcNctrNpc1m1NJNpc1m1NNpc1m1NNpc1m1N
• Purkinje cell degeneration_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0000876BALBcNctrNpc1m1NJNpc1m1NNpc1m1NNpc1m1N
• decreased grip strength_Npc1<nmf164>/Npc1<nmf164>
  http://metadb.riken.jp/0010053C57BL6JNpc1nmf164JNpc1nmf164Npc1nmf164Npc1nmf164
• decreased liver cholesterol level_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0010026BALBcNctrNpc1m1NJNpc1m1NNpc1m1NNpc1m1N
• weight loss_Npc1<nmf164>/Npc1<nmf164>
  http://metadb.riken.jp/0001263C57BL6JNpc1nmf164JNpc1nmf164Npc1nmf164Npc1nmf164
• abnormal cellular cholesterol metabolism_Npc1<nmf164>/Npc1<nmf164>
  http://metadb.riken.jp/0003191C57BL6JNpc1nmf164JNpc1nmf164Npc1nmf164Npc1nmf164
• increased macrophage derived foam cell number_Npc1<nmf164>/Npc1<nmf164>
  http://metadb.riken.jp/0004778C57BL6JNpc1nmf164JNpc1nmf164Npc1nmf164Npc1nmf164
• impaired coordination_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0001405BALBcNctrNpc1m1NJNpc1m1NNpc1m1NNpc1m1N
• weight loss_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0001263BALBcNctrNpc1m1NJNpc1m1NNpc1m1NNpc1m1N
• enlarged liver_Npc1<nmf164>/Npc1<nmf164>
  http://metadb.riken.jp/0000599C57BL6JNpc1nmf164JNpc1nmf164Npc1nmf164Npc1nmf164
• Purkinje cell degeneration_Npc1<nmf164>/Npc1<nmf164>
  http://metadb.riken.jp/0000876C57BL6JNpc1nmf164JNpc1nmf164Npc1nmf164Npc1nmf164
• enlarged liver_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0000599BALBcNctrNpc1m1NJNpc1m1NNpc1m1NNpc1m1N
• ataxia_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0001393BALBcNctrNpc1m1NJNpc1m1NNpc1m1NNpc1m1N
• decreased prepulse inhibition_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0009142BALBcNctrNpc1m1NJNpc1m1NNpc1m1NNpc1m1N
• abnormal microglial cell activation_Npc1<nmf164>/Npc1<nmf164>
  http://metadb.riken.jp/0010762C57BL6JNpc1nmf164JNpc1nmf164Npc1nmf164Npc1nmf164
• decreased prepulse inhibition_Npc1<nmf164>/Npc1<nmf164>
  http://metadb.riken.jp/0009142C57BL6JNpc1nmf164JNpc1nmf164Npc1nmf164Npc1nmf164
• ataxia_Npc1<nmf164>/Npc1<nmf164>
  http://metadb.riken.jp/0001393C57BL6JNpc1nmf164JNpc1nmf164Npc1nmf164Npc1nmf164
• abnormal lipid level_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0001547BALBcNctrNpc1m1NJNpc1m1NNpc1m1NNpc1m1N
• increased brain cholesterol level_Npc1<nmf164>/Npc1<nmf164>
  http://metadb.riken.jp/0010162C57BL6JNpc1nmf164JNpc1nmf164Npc1nmf164Npc1nmf164
• demyelination_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0000921BALBcNctrNpc1m1NJNpc1m1NNpc1m1NNpc1m1N
• decreased grip strength_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0010053BALBcNctrNpc1m1NJNpc1m1NNpc1m1NNpc1m1N
• abnormal lipid level_Npc1<nmf164>/Npc1<nmf164>
  http://metadb.riken.jp/0001547C57BL6JNpc1nmf164JNpc1nmf164Npc1nmf164Npc1nmf164
• increased startle reflex_Npc1<nmf164>/Npc1<nmf164>
  http://metadb.riken.jp/0001488C57BL6JNpc1nmf164JNpc1nmf164Npc1nmf164Npc1nmf164
• sphingomyelinosis_Npc1<nmf164>/Npc1<nmf164>
  http://metadb.riken.jp/0009589C57BL6JNpc1nmf164JNpc1nmf164Npc1nmf164Npc1nmf164
• increased startle reflex_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0001488BALBcNctrNpc1m1NJNpc1m1NNpc1m1NNpc1m1N
• lethality, incomplete penetrance_Npc1<nmf164>/Npc1<nmf164>
  http://metadb.riken.jp/0010831C57BL6JNpc1nmf164JNpc1nmf164Npc1nmf164Npc1nmf164
• premature death_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0002083BALBcNctrNpc1m1NJNpc1m1NNpc1m1NNpc1m1N
• enlarged spleen_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0000691BALBcNctrNpc1m1NJNpc1m1NNpc1m1NNpc1m1N
• decreased liver cholesterol level_Npc1<nmf164>/Npc1<nmf164>
  http://metadb.riken.jp/0010026C57BL6JNpc1nmf164JNpc1nmf164Npc1nmf164Npc1nmf164
• enlarged spleen_Npc1<nmf164>/Npc1<nmf164>
  http://metadb.riken.jp/0000691C57BL6JNpc1nmf164JNpc1nmf164Npc1nmf164Npc1nmf164
• premature death_Npc1<nmf164>/Npc1<nmf164>
  http://metadb.riken.jp/0002083C57BL6JNpc1nmf164JNpc1nmf164Npc1nmf164Npc1nmf164
• increased liver cholesterol level_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0010027BALBcNctrNpc1m1NJNpc1m1NNpc1m1NNpc1m1N
• abnormal astrocyte physiology_Npc1<nmf164>/Npc1<nmf164>
  http://metadb.riken.jp/0008916C57BL6JNpc1nmf164JNpc1nmf164Npc1nmf164Npc1nmf164