abnormal ceramide level_Npc1<tm1.1Dso>/Npc1<tm1.1Dso>

http://metadb.riken.jp/0012232B6129Npc1tm11DsoNpc1tm11DsoNpc1tm11DsoNpc1tm11Dso

abnormal ceramide level_Npc1<tm1.1Dso>/Npc1<tm1.1Dso>

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<tm1.1Dso>/Npc1<tm1.1Dso>

アレルシンボル

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

• Npc1<tm1.1Dso>

遺伝的背景

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

• B6.129-Npc1<tm1.1Dso>

MP annotation

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

• abnormal ceramide level
  http://purl.obolibrary.org/obo/MP_0012232

文献

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

• Maria. Praggastis, et.al., A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele., The Journal of neuroscience : the official journal of the Society for Neuroscience, 2015, 35
  http://rdf.ncbi.nlm.nih.gov/pubmed/26019327