abnormal lysosome morphology_Npc2<tm1Plob>/Npc2<tm1Plob>

http://metadb.riken.jp/0005058C129S1Npc2tm1PlobNpc2tm1PlobNpc2tm1PlobNpc2tm1Plob

abnormal lysosome morphology_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

遺伝子型

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

• Npc2<tm1Plob>/Npc2<tm1Plob>

アレルシンボル

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

• Npc2<tm1Plob>

遺伝的背景

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

• C.129S1-Npc2<tm1Plob>

MP annotation

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

• abnormal lysosome morphology
  http://purl.obolibrary.org/obo/MP_0005058

文献

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

• Nicolas. Schrantz, et.al., The Niemann-Pick type C2 protein loads isoglobotrihexosylceramide onto CD1d molecules and contributes to the thymic selection of NKT cells., The Journal of experimental medicine, 2007, 204
  http://rdf.ncbi.nlm.nih.gov/pubmed/17389239