increased circulating creatine kinase level_Sgca<tm1Kcam>/Sgca<tm1Kcam>

http://metadb.riken.jp/0010090I129S1Sv129X1SvJSgcatm1KcamSgcatm1KcamSgcatm1Kcam

increased circulating creatine kinase level_Sgca<tm1Kcam>/Sgca<tm1Kcam>

表現型アノテーション

MGI marker

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

• sarcoglycan, alpha (dystrophin-associated glycoprotein)
  http://metadb.riken.jp/db/mgi_rdf/MGI:894698

遺伝子型

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

• Sgca<tm1Kcam>/Sgca<tm1Kcam>

アレルシンボル

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

• Sgca<tm1Kcam>

遺伝的背景

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

• involves: 129S1/Sv * 129X1/SvJ

MP annotation

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

• increased circulating creatine kinase level
  http://purl.obolibrary.org/obo/MP_0010090

文献

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

• Kazuhiro. Kobuke, et.al., A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice., Human molecular genetics, 2008, 17
  http://rdf.ncbi.nlm.nih.gov/pubmed/18252746
• F. Duclos, et.al., Progressive muscular dystrophy in alpha-sarcoglycan-deficient mice., The Journal of cell biology, 1998, 142
  http://rdf.ncbi.nlm.nih.gov/pubmed/9744877