metabolic acidosis_Mut<tm1Cpv>/Mut<tm1Cpv>,Tg(Alb-Mut)#Cpv/0

http://metadb.riken.jp/0012551IC57BL6Muttm1CpvMuttm1CpvTgAlbMutCpv0Muttm1CpvTgAlbMutCpv

metabolic acidosis_Mut<tm1Cpv>/Mut<tm1Cpv>,Tg(Alb-Mut)#Cpv/0

表現型アノテーション

MGI marker

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

• transgene insertion, Charles P Venditti
  http://metadb.riken.jp/db/mgi_rdf/MGI:5527450
• methylmalonyl-Coenzyme A mutase
  http://metadb.riken.jp/db/mgi_rdf/MGI:97239

遺伝子型

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

• Mut<tm1Cpv>/Mut<tm1Cpv>,Tg(Alb-Mut)#Cpv/0

アレルシンボル

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

• Mut<tm1Cpv>|Tg(Alb-Mut)#Cpv

遺伝的背景

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

• involves: C57BL/6

MP annotation

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

• metabolic acidosis
  http://purl.obolibrary.org/obo/MP_0012551

文献

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

• Irini. Manoli, et.al., Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia., Proceedings of the National Academy of Sciences of the United States of America, 2013, 110
  http://rdf.ncbi.nlm.nih.gov/pubmed/23898205