brain vacuoles_Clcn2<tm2.1Tjj>/Clcn2<tm2.1Tjj>,Hepacam<tm1.2Tjj>/Hepacam<tm1.2Tjj>

http://metadb.riken.jp/0008025I129S1Sv129X1SvJC57BL6NTacClcn2tm21TjjClcn2tm21TjjHepacamtm12TjjHepacamtm12TjjHepacamtm12TjjClcn2tm21Tjj

brain vacuoles_Clcn2<tm2.1Tjj>/Clcn2<tm2.1Tjj>,Hepacam<tm1.2Tjj>/Hepacam<tm1.2Tjj>

表現型アノテーション

MGI marker

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

• hepatocyte cell adhesion molecule
  http://metadb.riken.jp/db/mgi_rdf/MGI:1920177
• chloride channel, voltage-sensitive 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:105061

遺伝子型

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

• Clcn2<tm2.1Tjj>/Clcn2<tm2.1Tjj>,Hepacam<tm1.2Tjj>/Hepacam<tm1.2Tjj>

アレルシンボル

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

• Hepacam<tm1.2Tjj>|Clcn2<tm2.1Tjj>

遺伝的背景

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

• involves: 129S1/Sv * 129X1/SvJ * C57BL/6NTac

MP annotation

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

• brain vacuoles
  http://purl.obolibrary.org/obo/MP_0008025

文献

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

• Maja B. Hoegg-Beiler, et.al., Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction., Nature communications, 2014, 5
  http://rdf.ncbi.nlm.nih.gov/pubmed/24647135