abnormal myelin sheath morphology_Clcn2<tm1Tjj>/Clcn2<tm1Tjj>

http://metadb.riken.jp/0003871I129S1Sv129X1SvJC57BL6Clcn2tm1TjjClcn2tm1TjjClcn2tm1Tjj

abnormal myelin sheath morphology_Clcn2<tm1Tjj>/Clcn2<tm1Tjj>

表現型アノテーション

MGI marker

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

• 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<tm1Tjj>/Clcn2<tm1Tjj>

アレルシンボル

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

• Clcn2<tm1Tjj>

遺伝的背景

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

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

MP annotation

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

• abnormal myelin sheath morphology
  http://purl.obolibrary.org/obo/MP_0003871

文献

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

• Judith. Blanz, et.al., Leukoencephalopathy upon disruption of the chloride channel ClC-2., The Journal of neuroscience : the official journal of the Society for Neuroscience, 2007, 27
  http://rdf.ncbi.nlm.nih.gov/pubmed/17567819
• 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