abnormal enzyme/coenzyme activity_Slc25a19<tm1Mjl>/Slc25a19<tm1Mjl>

http://metadb.riken.jp/0005584EI129S6SvEvTacorI129S6SvEvTacBlackSwissSlc25a19tm1MjlSlc25a19tm1MjlSlc25a19tm1Mjl

abnormal enzyme/coenzyme activity_Slc25a19<tm1Mjl>/Slc25a19<tm1Mjl>

表現型アノテーション

MGI marker

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

• solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
  http://metadb.riken.jp/db/mgi_rdf/MGI:1914533

遺伝子型

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

• Slc25a19<tm1Mjl>/Slc25a19<tm1Mjl>

アレルシンボル

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

• Slc25a19<tm1Mjl>

遺伝的背景

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

• either: (involves: 129S6/SvEvTac) or (involves: 129S6/SvEvTac * Black Swiss)

MP annotation

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

• abnormal enzyme/coenzyme activity
  http://purl.obolibrary.org/obo/MP_0005584

文献

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

• Marjorie J. Lindhurst, et.al., Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia., Proceedings of the National Academy of Sciences of the United States of America, 2006, 103
  http://rdf.ncbi.nlm.nih.gov/pubmed/17035501