ataxia_Npc1<tm1Mbjg>/Npc1<tm1Mbjg>

http://metadb.riken.jp/0001393I129S6SvEvTacC57BL6JNpc1tm1MbjgNpc1tm1MbjgNpc1tm1Mbjg

ataxia_Npc1<tm1Mbjg>/Npc1<tm1Mbjg>

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<tm1Mbjg>/Npc1<tm1Mbjg>

アレルシンボル

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

• Npc1<tm1Mbjg>

遺伝的背景

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

• involves: 129S6/SvEvTac * C57BL/6J

MP annotation

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

• ataxia
  http://purl.obolibrary.org/obo/MP_0001393

文献

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

• Xuefen. Xie, et.al., Amino acid substitution in NPC1 that abolishes cholesterol binding reproduces phenotype of complete NPC1 deficiency in mice., Proceedings of the National Academy of Sciences of the United States of America, 2011, 108
  http://rdf.ncbi.nlm.nih.gov/pubmed/21896731