dystrophic muscle_Dysf<prmd>/Dysf<prmd>,Hprt<tm2(CAG-Myof)Isrd>/Hprt<tm2(CAG-Myof)Isrd>

http://metadb.riken.jp/0000752I129AJC57BL6DysfprmdDysfprmdHprttm2CAGMyofIsrdHprttm2CAGMyofIsrdHprttm2CAGMyofIsrdDysfprmd

dystrophic muscle_Dysf<prmd>/Dysf<prmd>,Hprt<tm2(CAG-Myof)Isrd>/Hprt<tm2(CAG-Myof)Isrd>

表現型アノテーション

MGI marker

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

• hypoxanthine guanine phosphoribosyl transferase
  http://metadb.riken.jp/db/mgi_rdf/MGI:96217
• dysferlin
  http://metadb.riken.jp/db/mgi_rdf/MGI:1349385

遺伝子型

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

• Dysf<prmd>/Dysf<prmd>,Hprt<tm2(CAG-Myof)Isrd>/Hprt<tm2(CAG-Myof)Isrd>

アレルシンボル

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

• Hprt<tm2(CAG-Myof)Isrd>|Dysf<prmd>

遺伝的背景

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

• involves: 129 * A/J * C57BL/6

MP annotation

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

• dystrophic muscle
  http://purl.obolibrary.org/obo/MP_0000752

文献

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

• William. Lostal, et.al., Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy., PloS one, 2012, 7
  http://rdf.ncbi.nlm.nih.gov/pubmed/22666441