increased circulating creatine kinase level_Dysf<tm1Kcam>/Dysf<tm1Kcam>

http://metadb.riken.jp/0010090I129S1Sv129X1SvJC57BL6Dysftm1KcamDysftm1KcamDysftm1Kcam

increased circulating creatine kinase level_Dysf<tm1Kcam>/Dysf<tm1Kcam>

表現型アノテーション

MGI marker

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

• dysferlin
  http://metadb.riken.jp/db/mgi_rdf/MGI:1349385

遺伝子型

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

• Dysf<tm1Kcam>/Dysf<tm1Kcam>

アレルシンボル

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

• Dysf<tm1Kcam>

遺伝的背景

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

• involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

• Dimple. Bansal, et.al., Defective membrane repair in dysferlin-deficient muscular dystrophy., Nature, 2003, 423
  http://rdf.ncbi.nlm.nih.gov/pubmed/12736685
• Renzhi. Han, et.al., Genetic ablation of complement C3 attenuates muscle pathology in dysferlin-deficient mice., The Journal of clinical investigation, 2010, 120
  http://rdf.ncbi.nlm.nih.gov/pubmed/21060153