abnormal mitochondrion morphology_Col1a1<tm3(CAG-IDH2*R140Q)Kkw>/Col1a1<+>,Tg(UBC-cre/ERT2)1Ejb/0

http://metadb.riken.jp/0006035I129SSvEv129S4SvJaeBALBcC57BL6Col1a1tm3CAGIDH2R140QKkwCol1a1TgUBCcreERT21Ejb0Col1a1tm3CAGIDH2R140QKkwTgUBCcreERT21EjbCol1a1

abnormal mitochondrion morphology_Col1a1<tm3(CAG-IDH2*R140Q)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<tm3(CAG-IDH2*R140Q)Kkw>/Col1a1<+>,Tg(UBC-cre/ERT2)1Ejb/0

アレルシンボル

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

• Col1a1<tm3(CAG-IDH2*R140Q)Kkw>|Tg(UBC-cre/ERT2)1Ejb|Col1a1<+>

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 mitochondrion morphology
  http://purl.obolibrary.org/obo/MP_0006035

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