premature death_Mpv17/Mpv17

http://metadb.riken.jp/0002083ICFWMpv17Mpv17Mpv17

premature death_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

• premature death
  http://purl.obolibrary.org/obo/MP_0002083

文献

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

• J. Schenkel, et.al., Functional rescue of the glomerulosclerosis phenotype in Mpv17 mice by transgenesis with the human Mpv17 homologue., Kidney international, 1995, 48
  http://rdf.ncbi.nlm.nih.gov/pubmed/7564095
• 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
• H. Weiher, et.al., Transgenic mouse model of kidney disease: insertional inactivation of ubiquitously expressed gene leads to nephrotic syndrome., Cell, 1990, 62
  http://rdf.ncbi.nlm.nih.gov/pubmed/1696177
• T. O'Bryan, et.al., Course of renal injury in the Mpv17-deficient transgenic mouse., Journal of the American Society of Nephrology : JASN, 2000, 11
  http://rdf.ncbi.nlm.nih.gov/pubmed/10820170