muscular atrophy_Gne<tm1Sngi>/Gne<tm1Sngi>,Tg(ACTB-GNE*D176V)9Sngi/0

http://metadb.riken.jp/0002269IC57BL6Gnetm1SngiGnetm1SngiTgACTBGNED176V9Sngi0Gnetm1SngiTgACTBGNED176V9Sngi

muscular atrophy_Gne<tm1Sngi>/Gne<tm1Sngi>,Tg(ACTB-GNE*D176V)9Sngi/0

表現型アノテーション

MGI marker

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

• glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
  http://metadb.riken.jp/db/mgi_rdf/MGI:1354951
• transgene insertion 9, Satoru Noguchi
  http://metadb.riken.jp/db/mgi_rdf/MGI:3698857

遺伝子型

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

• Gne<tm1Sngi>/Gne<tm1Sngi>,Tg(ACTB-GNE*D176V)9Sngi/0

アレルシンボル

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

• Gne<tm1Sngi>|Tg(ACTB-GNE*D176V)9Sngi

遺伝的背景

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

• involves: C57BL/6

MP annotation

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

• muscular atrophy
  http://purl.obolibrary.org/obo/MP_0002269

文献

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

• May Christine V. Malicdan, et.al., A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy., Human molecular genetics, 2007, 16
  http://rdf.ncbi.nlm.nih.gov/pubmed/17164266