increased circulating creatine kinase level_Mpv17/Mpv17

http://metadb.riken.jp/0010090ICFWMpv17Mpv17Mpv17

increased circulating creatine kinase level_Mpv17/Mpv17

表現型アノテーション

MGI marker

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

• MpV17 mitochondrial inner membrane protein
  http://metadb.riken.jp/db/mgi_rdf/MGI:97138

遺伝子型

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

• Mpv17/Mpv17

アレルシンボル

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

• Mpv17

遺伝的背景

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

• involves: CFW

MP annotation

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

• increased circulating creatine kinase level
  http://purl.obolibrary.org/obo/MP_0010090

文献

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

• Carlo. Viscomi, et.al., Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice., Human molecular genetics, 2009, 18
  http://rdf.ncbi.nlm.nih.gov/pubmed/18818194