abnormal sarcomere morphology_Neb<tm2Hgra>/Neb<tm2Hgra>,Tg(Ckmm-cre)5Khn/0

http://metadb.riken.jp/0004090I129S6SvEvTacFVBNebtm2HgraNebtm2HgraTgCkmmcre5Khn0Nebtm2HgraTgCkmmcre5Khn

abnormal sarcomere morphology_Neb<tm2Hgra>/Neb<tm2Hgra>,Tg(Ckmm-cre)5Khn/0

表現型アノテーション

MGI marker

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

• nebulin
  http://metadb.riken.jp/db/mgi_rdf/MGI:97292
• transgene insertion 5, C Ronald Kahn
  http://metadb.riken.jp/db/mgi_rdf/MGI:2182093

遺伝子型

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

• Neb<tm2Hgra>/Neb<tm2Hgra>,Tg(Ckmm-cre)5Khn/0

アレルシンボル

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

• Neb<tm2Hgra>|Tg(Ckmm-cre)5Khn

遺伝的背景

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

• involves: 129S6/SvEvTac * FVB

MP annotation

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

• abnormal sarcomere morphology
  http://purl.obolibrary.org/obo/MP_0004090

文献

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

• Frank. Li, et.al., Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy., Human molecular genetics, 2015, 24
  http://rdf.ncbi.nlm.nih.gov/pubmed/26123491