embryonic lethality, incomplete penetrance_Col1a1<tm3(CAG-IDH2*R140Q)Kkw>/Col1a1<+>,Tmem163<Tg(ACTB-cre)2Mrt>/0

http://metadb.riken.jp/0011102I129S4SvJaeBALBcC57BL6FVBNCol1a1tm3CAGIDH2R140QKkwCol1a1Tmem163TgACTBcre2Mrt0Col1a1Col1a1tm3CAGIDH2R140QKkwTmem163TgACTBcre2Mrt

embryonic lethality, incomplete penetrance_Col1a1<tm3(CAG-IDH2*R140Q)Kkw>/Col1a1<+>,Tmem163<Tg(ACTB-cre)2Mrt>/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
• transmembrane protein 163
  http://metadb.riken.jp/db/mgi_rdf/MGI:1919410

遺伝子型

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

• Col1a1<tm3(CAG-IDH2*R140Q)Kkw>/Col1a1<+>,Tmem163<Tg(ACTB-cre)2Mrt>/0

アレルシンボル

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

• Col1a1<+>|Col1a1<tm3(CAG-IDH2*R140Q)Kkw>|Tmem163<Tg(ACTB-cre)2Mrt>

遺伝的背景

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

• involves: 129S4/SvJae * BALB/c * C57BL/6 * FVB/N

MP annotation

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

• partial embryonic lethality
  http://purl.obolibrary.org/obo/MP_0011102

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