abnormal skeletal muscle morphology_Col1a1<tm2(CAG-IDH2*R172K)Kkw>/Col1a1<+>,Tg(UBC-cre/ERT2)1Ejb/0

http://metadb.riken.jp/0000759I129SSvEv129S4SvJaeBALBcC57BL6Col1a1tm2CAGIDH2R172KKkwCol1a1TgUBCcreERT21Ejb0TgUBCcreERT21EjbCol1a1Col1a1tm2CAGIDH2R172KKkw

abnormal skeletal muscle morphology_Col1a1<tm2(CAG-IDH2*R172K)Kkw>/Col1a1<+>,Tg(UBC-cre/ERT2)1Ejb/0

表現型アノテーション

MGI marker

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

• collagen, type I, alpha 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:88467
• transgene insertion 1, Eric J Brown
  http://metadb.riken.jp/db/mgi_rdf/MGI:3707330

遺伝子型

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

• Col1a1<tm2(CAG-IDH2*R172K)Kkw>/Col1a1<+>,Tg(UBC-cre/ERT2)1Ejb/0

アレルシンボル

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

• Tg(UBC-cre/ERT2)1Ejb|Col1a1<+>|Col1a1<tm2(CAG-IDH2*R172K)Kkw>

遺伝的背景

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

• involves: 129S/SvEv * 129S4/SvJae * BALB/c * C57BL/6

MP annotation

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

• abnormal skeletal muscle morphology
  http://purl.obolibrary.org/obo/MP_0000759

文献

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

• Esra A. Akbay, et.al., D-2-hydroxyglutarate produced by mutant IDH2 causes cardiomyopathy and neurodegeneration in mice., Genes & development, 2014, 28
  http://rdf.ncbi.nlm.nih.gov/pubmed/24589777