Matthew J. Elrick, et.al., Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration., Human molecular genetics, 2010, 19

http://rdf.ncbi.nlm.nih.gov/pubmed/20007718

Matthew J. Elrick, et.al., Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration., Human molecular genetics, 2010, 19

pubmed

allele

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

• Npc1<tm1.1Apl>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4431252
• Npc1<tm1.2Apl>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4431253

class

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

• Npc1<tm1.1Apl>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4431252
• Npc1<tm1.2Apl>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4431253

表現型アノテーション

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

• premature death_Npc1<m1N>/Npc1<tm1.2Apl>
  http://metadb.riken.jp/0002083B6CgNpc1m1NNpc1tm12AplNpc1m1NNpc1tm12AplNpc1tm12AplNpc1m1N
• abnormal motor capabilities/coordination/movement_Npc1<tm1.2Apl>/Npc1<tm1.2Apl>
  http://metadb.riken.jp/0002066C57BL6Npc1tm12AplNpc1tm12AplNpc1tm12AplNpc1tm12Apl
• Purkinje cell degeneration_Npc1<tm1.1Apl>/Npc1<tm1.2Apl>,Tg(Pcp2-cre)2Mpin/0
  http://metadb.riken.jp/0000876B6CgNpc1tm11AplNpc1tm12AplTgPcp2cre2MpinNpc1tm11AplNpc1tm12AplTgPcp2cre2Mpin0Npc1tm11AplNpc1tm12AplTgPcp2cre2Mpin
• astrocytosis_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0003354B6CNpc1m1NNpc1m1NNpc1m1NNpc1m1N
• microgliosis_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0008918B6CNpc1m1NNpc1m1NNpc1m1NNpc1m1N
• weight loss_Npc1<tm1.2Apl>/Npc1<tm1.2Apl>
  http://metadb.riken.jp/0001263C57BL6Npc1tm12AplNpc1tm12AplNpc1tm12AplNpc1tm12Apl
• Purkinje cell degeneration_Npc1<m1N>/Npc1<tm1.2Apl>
  http://metadb.riken.jp/0000876B6CgNpc1m1NNpc1tm12AplNpc1m1NNpc1tm12AplNpc1tm12AplNpc1m1N
• foam cell reticulosis_Npc1<m1N>/Npc1<tm1.2Apl>
  http://metadb.riken.jp/0009841B6CgNpc1m1NNpc1tm12AplNpc1m1NNpc1tm12AplNpc1tm12AplNpc1m1N
• impaired coordination_Npc1<tm1.1Apl>/Npc1<tm1.2Apl>,Tg(Pcp2-cre)2Mpin/0
  http://metadb.riken.jp/0001405B6CgNpc1tm11AplNpc1tm12AplTgPcp2cre2MpinNpc1tm11AplNpc1tm12AplTgPcp2cre2Mpin0Npc1tm11AplNpc1tm12AplTgPcp2cre2Mpin
• astrocytosis_Npc1<m1N>/Npc1<tm1.2Apl>
  http://metadb.riken.jp/0003354B6CgNpc1m1NNpc1tm12AplNpc1m1NNpc1tm12AplNpc1tm12AplNpc1m1N
• decreased body size_Npc1<m1N>/Npc1<tm1.2Apl>
  http://metadb.riken.jp/0001265B6CgNpc1m1NNpc1tm12AplNpc1m1NNpc1tm12AplNpc1tm12AplNpc1m1N
• increased cholesterol level_Npc1<tm1.1Apl>/Npc1<tm1.2Apl>,Tg(Pcp2-cre)2Mpin/0
  http://metadb.riken.jp/0003982B6CgNpc1tm11AplNpc1tm12AplTgPcp2cre2MpinNpc1tm11AplNpc1tm12AplTgPcp2cre2Mpin0Npc1tm11AplNpc1tm12AplTgPcp2cre2Mpin
• Purkinje cell degeneration_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0000876B6CNpc1m1NNpc1m1NNpc1m1NNpc1m1N
• impaired coordination_Npc1<m1N>/Npc1<tm1.2Apl>
  http://metadb.riken.jp/0001405B6CgNpc1m1NNpc1tm12AplNpc1m1NNpc1tm12AplNpc1tm12AplNpc1m1N
• ataxia_Npc1<tm1.1Apl>/Npc1<tm1.2Apl>,Tg(Pcp2-cre)2Mpin/0
  http://metadb.riken.jp/0001393B6CgNpc1tm11AplNpc1tm12AplTgPcp2cre2MpinNpc1tm11AplNpc1tm12AplTgPcp2cre2Mpin0Npc1tm11AplNpc1tm12AplTgPcp2cre2Mpin
• tremors_Npc1<tm1.1Apl>/Npc1<tm1.2Apl>,Tg(Pcp2-cre)2Mpin/0
  http://metadb.riken.jp/0000745B6CgNpc1tm11AplNpc1tm12AplTgPcp2cre2MpinNpc1tm11AplNpc1tm12AplTgPcp2cre2Mpin0Npc1tm11AplNpc1tm12AplTgPcp2cre2Mpin
• increased cholesterol level_Npc1<m1N>/Npc1<tm1.2Apl>
  http://metadb.riken.jp/0003982B6CgNpc1m1NNpc1tm12AplNpc1m1NNpc1tm12AplNpc1tm12AplNpc1m1N
• increased cholesterol level_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0003982B6CNpc1m1NNpc1m1NNpc1m1NNpc1m1N
• microgliosis_Npc1<m1N>/Npc1<tm1.2Apl>
  http://metadb.riken.jp/0008918B6CgNpc1m1NNpc1tm12AplNpc1m1NNpc1tm12AplNpc1tm12AplNpc1m1N
• weight loss_Npc1<m1N>/Npc1<tm1.2Apl>
  http://metadb.riken.jp/0001263B6CgNpc1m1NNpc1tm12AplNpc1m1NNpc1tm12AplNpc1tm12AplNpc1m1N
• microgliosis_Npc1<tm1.1Apl>/Npc1<tm1.2Apl>,Tg(Pcp2-cre)2Mpin/0
  http://metadb.riken.jp/0008918B6CgNpc1tm11AplNpc1tm12AplTgPcp2cre2MpinNpc1tm11AplNpc1tm12AplTgPcp2cre2Mpin0Npc1tm11AplNpc1tm12AplTgPcp2cre2Mpin
• foam cell reticulosis_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0009841B6CNpc1m1NNpc1m1NNpc1m1NNpc1m1N
• premature death_Npc1<tm1.2Apl>/Npc1<tm1.2Apl>
  http://metadb.riken.jp/0002083C57BL6Npc1tm12AplNpc1tm12AplNpc1tm12AplNpc1tm12Apl