abnormal glial cell physiology_Mlc1<tm1.2Nune>/Mlc1<tm1.2Nune>

http://metadb.riken.jp/0003690I129C57BL6Mlc1tm12NuneMlc1tm12NuneMlc1tm12Nune

abnormal glial cell physiology_Mlc1<tm1.2Nune>/Mlc1<tm1.2Nune>

表現型アノテーション

MGI marker

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

• megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human)
  http://metadb.riken.jp/db/mgi_rdf/MGI:2157910

遺伝子型

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

• Mlc1<tm1.2Nune>/Mlc1<tm1.2Nune>

アレルシンボル

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

• Mlc1<tm1.2Nune>

遺伝的背景

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

• involves: 129 * C57BL/6

MP annotation

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

• abnormal glial cell physiology
  http://purl.obolibrary.org/obo/MP_0003690

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