abnormal lysosome physiology_Gaa<tm1Rabn>/Gaa<tm1Rabn>,Tg(CMV-GAA*P545L)#Kjv/0

http://metadb.riken.jp/0003172I129X1SvJC57BL6Gaatm1RabnGaatm1RabnTgCMVGAAP545LKjv0TgCMVGAAP545LKjvGaatm1Rabn

abnormal lysosome physiology_Gaa<tm1Rabn>/Gaa<tm1Rabn>,Tg(CMV-GAA*P545L)#Kjv/0

表現型アノテーション

MGI marker

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

• transgene insertion, Kenneth J Valenzano
  http://metadb.riken.jp/db/mgi_rdf/MGI:5620660
• glucosidase, alpha, acid
  http://metadb.riken.jp/db/mgi_rdf/MGI:95609

遺伝子型

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

• Gaa<tm1Rabn>/Gaa<tm1Rabn>,Tg(CMV-GAA*P545L)#Kjv/0

アレルシンボル

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

• Tg(CMV-GAA*P545L)#Kjv|Gaa<tm1Rabn>

遺伝的背景

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

• involves: 129X1/SvJ * C57BL/6

MP annotation

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

• abnormal lysosome physiology
  http://purl.obolibrary.org/obo/MP_0003172

文献

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

• Richie. Khanna, et.al., The pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe disease., PloS one, 2014, 9
  http://rdf.ncbi.nlm.nih.gov/pubmed/25036864