abnormal lipid homeostasis_Npc1<m1N>/Npc1<m1N>,Npc2<tm1Plob>/Npc2<tm1Plob>

http://metadb.riken.jp/0002118I129S1SvBALBcC57BL6Npc1m1NNpc1m1NNpc2tm1PlobNpc2tm1PlobNpc2tm1PlobNpc1m1N

abnormal lipid homeostasis_Npc1<m1N>/Npc1<m1N>,Npc2<tm1Plob>/Npc2<tm1Plob>

表現型アノテーション

MGI marker

http://metadb.riken.jp/db/mgi_rdf/variant_of

• Niemann-Pick type C2
  http://metadb.riken.jp/db/mgi_rdf/MGI:1915213
• Niemann-Pick type C1
  http://metadb.riken.jp/db/mgi_rdf/MGI:1097712

遺伝子型

http://metadb.riken.jp/db/mgi_rdf/allele_composition

• Npc1<m1N>/Npc1<m1N>,Npc2<tm1Plob>/Npc2<tm1Plob>

アレルシンボル

http://metadb.riken.jp/db/mgi_rdf/allele_symbol

• Npc2<tm1Plob>|Npc1<m1N>

遺伝的背景

http://metadb.riken.jp/db/mgi_rdf/genetic_background

• involves: 129S1/Sv * BALB/c * C57BL/6

MP annotation

http://metadb.riken.jp/db/bioresource_schema/brs_indicatesPhenotype

• abnormal lipid homeostasis
  http://purl.obolibrary.org/obo/MP_0002118

文献

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

• 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