lipidosis_Npc1<m1N>/Npc1<m1N>

http://metadb.riken.jp/0008570IBALBcNpc1m1NNpc1m1NNpc1m1N

lipidosis_Npc1<m1N>/Npc1<m1N>

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<m1N>/Npc1<m1N>

アレルシンボル

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

• Npc1<m1N>

遺伝的背景

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

• involves: BALB/c

MP annotation

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

• lipidosis
  http://purl.obolibrary.org/obo/MP_0008570

文献

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

• Nicolas Y. Gévry, et.al., Aberrant intracellular cholesterol transport disrupts pituitary and ovarian function., Molecular endocrinology (Baltimore, Md.), 2004, 18
  http://rdf.ncbi.nlm.nih.gov/pubmed/15105438
• Blair R. Roszell, et.al., Pulmonary abnormalities in animal models due to Niemann-Pick type C1 (NPC1) or C2 (NPC2) disease., PloS one, 2013, 8
  http://rdf.ncbi.nlm.nih.gov/pubmed/23843985
• P G. Pentchev, et.al., A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase., Biochimica et biophysica acta, 1980, 619
  http://rdf.ncbi.nlm.nih.gov/pubmed/6257302