abnormal enzyme/coenzyme level_Gba/Mtx1<tm1Bst>/Gba<tm1Nsb>,Gba/Mtx1<tm1Bst>/Mtx1<+>

http://metadb.riken.jp/0005319I129SSvEv129S4SvJaeGbaMtx1tm1BstGbatm1NsbGbaMtx1tm1BstMtx1Gbatm1NsbGbaMtx1tm1BstMtx1

abnormal enzyme/coenzyme level_Gba/Mtx1<tm1Bst>/Gba<tm1Nsb>,Gba/Mtx1<tm1Bst>/Mtx1<+>

表現型アノテーション

MGI marker

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

• metaxin 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:103025
• glucosidase, beta, acid
  http://metadb.riken.jp/db/mgi_rdf/MGI:95665

遺伝子型

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

• Gba/Mtx1<tm1Bst>/Gba<tm1Nsb>,Gba/Mtx1<tm1Bst>/Mtx1<+>

アレルシンボル

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

• Gba<tm1Nsb>|Gba/Mtx1<tm1Bst>|Mtx1<+>

遺伝的背景

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

• involves: 129S/SvEv * 129S4/SvJae

MP annotation

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

• abnormal enzyme/ coenzyme level
  http://purl.obolibrary.org/obo/MP_0005319

文献

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

• P. Bornstein, et.al., Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease., Proceedings of the National Academy of Sciences of the United States of America, 1995, 92
  http://rdf.ncbi.nlm.nih.gov/pubmed/7753840