abnormal metabolism_Ethe1<tm1.1Zev>/Ethe1<tm1.1Zev>

http://metadb.riken.jp/0005266I129S7SvEvBrdC57BL6Ethe1tm11ZevEthe1tm11ZevEthe1tm11Zev

abnormal metabolism_Ethe1<tm1.1Zev>/Ethe1<tm1.1Zev>

表現型アノテーション

MGI marker

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

• ethylmalonic encephalopathy 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:1913321

遺伝子型

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

• Ethe1<tm1.1Zev>/Ethe1<tm1.1Zev>

アレルシンボル

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

• Ethe1<tm1.1Zev>

遺伝的背景

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

• involves: 129S7/SvEvBrd * C57BL/6

MP annotation

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

• abnormal metabolism
  http://purl.obolibrary.org/obo/MP_0005266

文献

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

• Valeria. Tiranti, et.al., Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy., Nature medicine, 2009, 15
  http://rdf.ncbi.nlm.nih.gov/pubmed/19136963