progressive muscle weakness_Gaa<tm1Rabn>/Gaa<tm1Rabn>

http://metadb.riken.jp/0000748I129X1SvJC57BL6Gaatm1RabnGaatm1RabnGaatm1Rabn

progressive muscle weakness_Gaa<tm1Rabn>/Gaa<tm1Rabn>

表現型アノテーション

MGI marker

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

• 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>

アレルシンボル

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

• 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

• progressive muscle weakness
  http://purl.obolibrary.org/obo/MP_0000748

文献

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

• N. Raben, et.al., Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II., The Journal of biological chemistry, 1998, 273
  http://rdf.ncbi.nlm.nih.gov/pubmed/9668092
• N. Raben, et.al., Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase gene., Neuromuscular disorders : NMD, 2000, 10
  http://rdf.ncbi.nlm.nih.gov/pubmed/10838256