David E. Sleat, et.al., Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport., Proceedings of the National Academy of Sciences of the United States of America, 2004, 101

http://rdf.ncbi.nlm.nih.gov/pubmed/15071184

David E. Sleat, et.al., Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport., Proceedings of the National Academy of Sciences of the United States of America, 2004, 101

pubmed

allele

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

• Npc2<tm1Plob>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3044774

表現型アノテーション

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

• premature death_Npc1<m1N>/Npc1<m1N>,Npc2<tm1Plob>/Npc2<tm1Plob>
  http://metadb.riken.jp/0002083I129S1SvBALBcC57BL6Npc1m1NNpc1m1NNpc2tm1PlobNpc2tm1PlobNpc2tm1PlobNpc1m1N
• increased liver cholesterol level_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0010027I129S1SvBALBcC57BL6Npc1m1NNpc1m1NNpc1m1N
• Purkinje cell degeneration_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0000876I129S1SvBALBcC57BL6Npc1m1NNpc1m1NNpc1m1N
• premature death_Npc2<tm1Plob>/Npc2<tm1Plob>
  http://metadb.riken.jp/0002083I129S1SvC57BL6Npc2tm1PlobNpc2tm1PlobNpc2tm1Plob
• tremors_Npc2<tm1Plob>/Npc2<tm1Plob>
  http://metadb.riken.jp/0000745I129S1SvBALBcC57BL6Npc2tm1PlobNpc2tm1PlobNpc2tm1Plob
• Purkinje cell degeneration_Npc1<m1N>/Npc1<m1N>,Npc2<tm1Plob>/Npc2<tm1Plob>
  http://metadb.riken.jp/0000876I129S1SvBALBcC57BL6Npc1m1NNpc1m1NNpc2tm1PlobNpc2tm1PlobNpc2tm1PlobNpc1m1N
• ataxia_Npc2<tm1Plob>/Npc2<tm1Plob>
  http://metadb.riken.jp/0001393I129S1SvBALBcC57BL6Npc2tm1PlobNpc2tm1PlobNpc2tm1Plob
• abnormal lipid homeostasis_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0002118I129S1SvBALBcC57BL6Npc1m1NNpc1m1NNpc1m1N
• premature death_Npc2<tm1Plob>/Npc2<tm1Plob>
  http://metadb.riken.jp/0002083I129S1SvBALBcC57BL6Npc2tm1PlobNpc2tm1PlobNpc2tm1Plob
• Purkinje cell degeneration_Npc2<tm1Plob>/Npc2<tm1Plob>
  http://metadb.riken.jp/0000876I129S1SvBALBcC57BL6Npc2tm1PlobNpc2tm1PlobNpc2tm1Plob
• weight loss_Npc2<tm1Plob>/Npc2<tm1Plob>
  http://metadb.riken.jp/0001263I129S1SvBALBcC57BL6Npc2tm1PlobNpc2tm1PlobNpc2tm1Plob
• increased liver cholesterol level_Npc2<tm1Plob>/Npc2<tm1Plob>
  http://metadb.riken.jp/0010027I129S1SvBALBcC57BL6Npc2tm1PlobNpc2tm1PlobNpc2tm1Plob
• weight loss_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0001263I129S1SvBALBcC57BL6Npc1m1NNpc1m1NNpc1m1N
• premature death_Npc2<tm1Plob>/Npc2<tm1Plob>
  http://metadb.riken.jp/0002083I129S1SvNpc2tm1PlobNpc2tm1PlobNpc2tm1Plob
• weight loss_Npc1<m1N>/Npc1<m1N>,Npc2<tm1Plob>/Npc2<tm1Plob>
  http://metadb.riken.jp/0001263I129S1SvBALBcC57BL6Npc1m1NNpc1m1NNpc2tm1PlobNpc2tm1PlobNpc2tm1PlobNpc1m1N
• abnormal lipid homeostasis_Npc1<m1N>/Npc1<m1N>,Npc2<tm1Plob>/Npc2<tm1Plob>
  http://metadb.riken.jp/0002118I129S1SvBALBcC57BL6Npc1m1NNpc1m1NNpc2tm1PlobNpc2tm1PlobNpc2tm1PlobNpc1m1N
• decreased Purkinje cell number_Npc1<m1N>/Npc1<m1N>,Npc2<tm1Plob>/Npc2<tm1Plob>
  http://metadb.riken.jp/0000880I129S1SvBALBcC57BL6Npc1m1NNpc1m1NNpc2tm1PlobNpc2tm1PlobNpc2tm1PlobNpc1m1N
• abnormal lipid homeostasis_Npc2<tm1Plob>/Npc2<tm1Plob>
  http://metadb.riken.jp/0002118I129S1SvBALBcC57BL6Npc2tm1PlobNpc2tm1PlobNpc2tm1Plob
• abnormal locomotor behavior_Npc2<tm1Plob>/Npc2<tm1Plob>
  http://metadb.riken.jp/0001392I129S1SvBALBcC57BL6Npc2tm1PlobNpc2tm1PlobNpc2tm1Plob
• increased liver cholesterol level_Npc1<m1N>/Npc1<m1N>,Npc2<tm1Plob>/Npc2<tm1Plob>
  http://metadb.riken.jp/0010027I129S1SvBALBcC57BL6Npc1m1NNpc1m1NNpc2tm1PlobNpc2tm1PlobNpc2tm1PlobNpc1m1N
• premature death_Npc1<m1N>/Npc1<m1N>
  http://metadb.riken.jp/0002083I129S1SvBALBcC57BL6Npc1m1NNpc1m1NNpc1m1N
• decreased Purkinje cell number_Npc2<tm1Plob>/Npc2<tm1Plob>
  http://metadb.riken.jp/0000880I129S1SvBALBcC57BL6Npc2tm1PlobNpc2tm1PlobNpc2tm1Plob

class

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

• Npc2<tm1Plob>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3044774