abnormal cellular cholesterol metabolism_Npc1<nmf164>/Npc1<nmf164>

http://metadb.riken.jp/0003191C57BL6JNpc1nmf164JNpc1nmf164Npc1nmf164Npc1nmf164

abnormal cellular cholesterol metabolism_Npc1<nmf164>/Npc1<nmf164>

表現型アノテーション

MGI marker

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

• 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<nmf164>/Npc1<nmf164>

アレルシンボル

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

• Npc1<nmf164>

遺伝的背景

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

• C57BL/6J-Npc1<nmf164>/J

MP annotation

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

• abnormal cellular cholesterol metabolism
  http://purl.obolibrary.org/obo/MP_0003191

文献

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

• 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