abnormal enzyme/coenzyme activity_Gba2<tm1Rus>/Gba2<+>

http://metadb.riken.jp/0005584I129S6SvEvC57BL6JGba2tm1RusGba2Gba2Gba2tm1Rus

abnormal enzyme/coenzyme activity_Gba2<tm1Rus>/Gba2<+>

表現型アノテーション

MGI marker

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

• glucosidase beta 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:2654325

遺伝子型

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

• Gba2<tm1Rus>/Gba2<+>

アレルシンボル

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

• Gba2<+>|Gba2<tm1Rus>

遺伝的背景

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

• involves: 129S6/SvEv * 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

• Yildiz. Yildiz, et.al., Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility., The Journal of clinical investigation, 2006, 116
  http://rdf.ncbi.nlm.nih.gov/pubmed/17080196