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., 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

pubmed

allele

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

• Gaa<tm1.1Rabn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2179955
• Gaa<tm1Rabn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2148550

class

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

• Gaa<tm1.1Rabn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2179955
• Gaa<tm1Rabn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2148550

表現型アノテーション

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

• abnormal muscle fiber morphology_Gaa<tm1Rabn>/Gaa<tm1Rabn>
  http://metadb.riken.jp/0004087I129X1SvJC57BL6Gaatm1RabnGaatm1RabnGaatm1Rabn
• increased skeletal muscle glycogen level_Gaa<tm1Rabn>/Gaa<tm1Rabn>
  http://metadb.riken.jp/0010401I129X1SvJC57BL6Gaatm1RabnGaatm1RabnGaatm1Rabn
• progressive muscle weakness_Gaa<tm1Rabn>/Gaa<tm1Rabn>
  http://metadb.riken.jp/0000748I129X1SvJC57BL6Gaatm1RabnGaatm1RabnGaatm1Rabn
• cardiomyopathy_Gaa<tm1Rabn>/Gaa<tm1Rabn>
  http://metadb.riken.jp/0005330I129X1SvJC57BL6Gaatm1RabnGaatm1RabnGaatm1Rabn
• abnormal sarcomere morphology_Gaa<tm1Rabn>/Gaa<tm1Rabn>
  http://metadb.riken.jp/0004090I129X1SvJC57BL6Gaatm1RabnGaatm1RabnGaatm1Rabn
• decreased grip strength_Gaa<tm1Rabn>/Gaa<tm1Rabn>
  http://metadb.riken.jp/0010053I129X1SvJC57BL6Gaatm1RabnGaatm1RabnGaatm1Rabn
• decreased vertical activity_Gaa<tm1Rabn>/Gaa<tm1Rabn>
  http://metadb.riken.jp/0002757I129X1SvJC57BL6Gaatm1RabnGaatm1RabnGaatm1Rabn
• increased cardiac muscle glycogen level_Gaa<tm1.1Rabn>/Gaa<tm1.1Rabn>
  http://metadb.riken.jp/0014071I129X1SvJC57BL6FVBNGaatm11RabnGaatm11RabnGaatm11Rabn
• increased cardiac muscle glycogen level_Gaa<tm1Rabn>/Gaa<tm1Rabn>
  http://metadb.riken.jp/0014071I129X1SvJC57BL6Gaatm1RabnGaatm1RabnGaatm1Rabn
• hypoactivity_Gaa<tm1Rabn>/Gaa<tm1Rabn>
  http://metadb.riken.jp/0001402I129X1SvJC57BL6Gaatm1RabnGaatm1RabnGaatm1Rabn
• increased skeletal muscle glycogen level_Gaa<tm1.1Rabn>/Gaa<tm1.1Rabn>
  http://metadb.riken.jp/0010401I129X1SvJC57BL6FVBNGaatm11RabnGaatm11RabnGaatm11Rabn
• muscle weakness_Gaa<tm1Rabn>/Gaa<tm1Rabn>
  http://metadb.riken.jp/0000747I129X1SvJC57BL6Gaatm1RabnGaatm1RabnGaatm1Rabn
• abnormal Z lines_Gaa<tm1Rabn>/Gaa<tm1Rabn>
  http://metadb.riken.jp/0004091I129X1SvJC57BL6Gaatm1RabnGaatm1RabnGaatm1Rabn
• abnormal gait_Gaa<tm1Rabn>/Gaa<tm1Rabn>
  http://metadb.riken.jp/0001406I129X1SvJC57BL6Gaatm1RabnGaatm1RabnGaatm1Rabn
• abnormal lysosome morphology_Gaa<tm1Rabn>/Gaa<tm1Rabn>
  http://metadb.riken.jp/0005058I129X1SvJC57BL6Gaatm1RabnGaatm1RabnGaatm1Rabn