lethality, incomplete penetrance_Npc1<m1N>/Npc1<m1N>

http://metadb.riken.jp/0010831BALBcNctrNpc1m1NJNpc1m1NNpc1m1NNpc1m1N

lethality, incomplete penetrance_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

• BALB/cNctr-Npc1<m1N>/J

MP annotation

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

• partial lethality
  http://purl.obolibrary.org/obo/MP_0010831

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