abnormal enzyme/coenzyme activity_Tymp<tm1Mihi>/Tymp<tm1Mihi>,Upp1<tm1Gp>/Upp1<tm1Gp>

http://metadb.riken.jp/0005584I129129X1SvJC57BL6JTymptm1MihiTymptm1MihiUpp1tm1GpUpp1tm1GpTymptm1MihiUpp1tm1Gp

abnormal enzyme/coenzyme activity_Tymp<tm1Mihi>/Tymp<tm1Mihi>,Upp1<tm1Gp>/Upp1<tm1Gp>

表現型アノテーション

MGI marker

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

• uridine phosphorylase 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:1097668
• thymidine phosphorylase
  http://metadb.riken.jp/db/mgi_rdf/MGI:1920212

遺伝子型

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

• Tymp<tm1Mihi>/Tymp<tm1Mihi>,Upp1<tm1Gp>/Upp1<tm1Gp>

アレルシンボル

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

• Tymp<tm1Mihi>|Upp1<tm1Gp>

遺伝的背景

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

• involves: 129 * 129X1/SvJ * C57BL/6J

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

• Luis C. López, et.al., Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice., Human molecular genetics, 2009, 18
  http://rdf.ncbi.nlm.nih.gov/pubmed/19028666