Sara K. Custer, et.al., Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone., Human molecular genetics, 2010, 19

http://rdf.ncbi.nlm.nih.gov/pubmed/20147319

Sara K. Custer, et.al., Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone., Human molecular genetics, 2010, 19

pubmed

allele

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

• Tg(CAG-VCP)7Jpat
  http://metadb.riken.jp/db/mgi_rdf/MGI:5435088
• Tg(CAG-VCP*R155H)55Jpat
  http://metadb.riken.jp/db/mgi_rdf/MGI:4440439
• Tg(CAG-VCP*A232E)93Jpat
  http://metadb.riken.jp/db/mgi_rdf/MGI:4440440

表現型アノテーション

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

• weight loss_Tg(CAG-VCP*A232E)93Jpat/0
  http://metadb.riken.jp/0001263IC57BL6SJLTgCAGVCPA232E93Jpat0TgCAGVCPA232E93Jpat
• premature death_Tg(CAG-VCP*R155H)55Jpat/0
  http://metadb.riken.jp/0002083IC57BL6SJLTgCAGVCPR155H55Jpat0TgCAGVCPR155H55Jpat
• decreased survivor rate_Tg(CAG-VCP*R155H)55Jpat/0
  http://metadb.riken.jp/0008770IC57BL6SJLTgCAGVCPR155H55Jpat0TgCAGVCPR155H55Jpat
• abnormal bone structure_Tg(CAG-VCP*A232E)93Jpat/0
  http://metadb.riken.jp/0003795IC57BL6SJLTgCAGVCPA232E93Jpat0TgCAGVCPA232E93Jpat
• abnormal skeletal muscle fiber morphology_Tg(CAG-VCP*A232E)93Jpat/0
  http://metadb.riken.jp/0003084IC57BL6SJLTgCAGVCPA232E93Jpat0TgCAGVCPA232E93Jpat
• abnormal trabecular bone morphology_Tg(CAG-VCP*R155H)55Jpat/0
  http://metadb.riken.jp/0000130IC57BL6SJLTgCAGVCPR155H55Jpat0TgCAGVCPR155H55Jpat
• decreased grip strength_Tg(CAG-VCP*R155H)55Jpat/0
  http://metadb.riken.jp/0010053IC57BL6SJLTgCAGVCPR155H55Jpat0TgCAGVCPR155H55Jpat
• abnormal bone structure_Tg(CAG-VCP*R155H)55Jpat/0
  http://metadb.riken.jp/0003795IC57BL6SJLTgCAGVCPR155H55Jpat0TgCAGVCPR155H55Jpat
• skeletal muscle degeneration_Tg(CAG-VCP*R155H)55Jpat/0
  http://metadb.riken.jp/0009415IC57BL6SJLTgCAGVCPR155H55Jpat0TgCAGVCPR155H55Jpat
• decreased bone volume_Tg(CAG-VCP*A232E)93Jpat/0
  http://metadb.riken.jp/0010876IC57BL6SJLTgCAGVCPA232E93Jpat0TgCAGVCPA232E93Jpat
• premature death_Tg(CAG-VCP*A232E)93Jpat/0
  http://metadb.riken.jp/0002083IC57BL6SJLTgCAGVCPA232E93Jpat0TgCAGVCPA232E93Jpat
• increased circulating alkaline phosphatase level_Tg(CAG-VCP*A232E)93Jpat/0
  http://metadb.riken.jp/0002968IC57BL6SJLTgCAGVCPA232E93Jpat0TgCAGVCPA232E93Jpat
• abnormal response to novel object_Tg(CAG-VCP*R155H)55Jpat/0
  http://metadb.riken.jp/0003461IC57BL6SJLTgCAGVCPR155H55Jpat0TgCAGVCPR155H55Jpat
• abnormal skeletal muscle fiber morphology_Tg(CAG-VCP*R155H)55Jpat/0
  http://metadb.riken.jp/0003084IC57BL6SJLTgCAGVCPR155H55Jpat0TgCAGVCPR155H55Jpat
• skeletal muscle degeneration_Tg(CAG-VCP*A232E)93Jpat/0
  http://metadb.riken.jp/0009415IC57BL6SJLTgCAGVCPA232E93Jpat0TgCAGVCPA232E93Jpat
• decreased bone volume_Tg(CAG-VCP*R155H)55Jpat/0
  http://metadb.riken.jp/0010876IC57BL6SJLTgCAGVCPR155H55Jpat0TgCAGVCPR155H55Jpat
• decreased grip strength_Tg(CAG-VCP*A232E)93Jpat/0
  http://metadb.riken.jp/0010053IC57BL6SJLTgCAGVCPA232E93Jpat0TgCAGVCPA232E93Jpat
• decreased bone trabecula number_Tg(CAG-VCP*A232E)93Jpat/0
  http://metadb.riken.jp/0010869IC57BL6SJLTgCAGVCPA232E93Jpat0TgCAGVCPA232E93Jpat
• increased compact bone thickness_Tg(CAG-VCP*R155H)55Jpat/0
  http://metadb.riken.jp/0004148IC57BL6SJLTgCAGVCPR155H55Jpat0TgCAGVCPR155H55Jpat
• weight loss_Tg(CAG-VCP*R155H)55Jpat/0
  http://metadb.riken.jp/0001263IC57BL6SJLTgCAGVCPR155H55Jpat0TgCAGVCPR155H55Jpat
• decreased trabecular bone thickness_Tg(CAG-VCP*A232E)93Jpat/0
  http://metadb.riken.jp/0009346IC57BL6SJLTgCAGVCPA232E93Jpat0TgCAGVCPA232E93Jpat
• increased circulating creatine kinase level_Tg(CAG-VCP*R155H)55Jpat/0
  http://metadb.riken.jp/0010090IC57BL6SJLTgCAGVCPR155H55Jpat0TgCAGVCPR155H55Jpat
• increased anxiety-related response_Tg(CAG-VCP*A232E)93Jpat/0
  http://metadb.riken.jp/0001363IC57BL6SJLTgCAGVCPA232E93Jpat0TgCAGVCPA232E93Jpat
• progressive muscle weakness_Tg(CAG-VCP*R155H)55Jpat/0
  http://metadb.riken.jp/0000748IC57BL6SJLTgCAGVCPR155H55Jpat0TgCAGVCPR155H55Jpat
• abnormal sarcomere morphology_Tg(CAG-VCP*A232E)93Jpat/0
  http://metadb.riken.jp/0004090IC57BL6SJLTgCAGVCPA232E93Jpat0TgCAGVCPA232E93Jpat
• abnormal compact bone morphology_Tg(CAG-VCP*A232E)93Jpat/0
  http://metadb.riken.jp/0003797IC57BL6SJLTgCAGVCPA232E93Jpat0TgCAGVCPA232E93Jpat
• increased anxiety-related response_Tg(CAG-VCP*R155H)55Jpat/0
  http://metadb.riken.jp/0001363IC57BL6SJLTgCAGVCPR155H55Jpat0TgCAGVCPR155H55Jpat
• decreased trabecular bone thickness_Tg(CAG-VCP*R155H)55Jpat/0
  http://metadb.riken.jp/0009346IC57BL6SJLTgCAGVCPR155H55Jpat0TgCAGVCPR155H55Jpat
• abnormal compact bone morphology_Tg(CAG-VCP*R155H)55Jpat/0
  http://metadb.riken.jp/0003797IC57BL6SJLTgCAGVCPR155H55Jpat0TgCAGVCPR155H55Jpat
• increased circulating creatine kinase level_Tg(CAG-VCP*A232E)93Jpat/0
  http://metadb.riken.jp/0010090IC57BL6SJLTgCAGVCPA232E93Jpat0TgCAGVCPA232E93Jpat
• abnormal neuron morphology_Tg(CAG-VCP*A232E)93Jpat/0
  http://metadb.riken.jp/0002882IC57BL6SJLTgCAGVCPA232E93Jpat0TgCAGVCPA232E93Jpat
• abnormal sarcomere morphology_Tg(CAG-VCP*R155H)55Jpat/0
  http://metadb.riken.jp/0004090IC57BL6SJLTgCAGVCPR155H55Jpat0TgCAGVCPR155H55Jpat
• progressive muscle weakness_Tg(CAG-VCP*A232E)93Jpat/0
  http://metadb.riken.jp/0000748IC57BL6SJLTgCAGVCPA232E93Jpat0TgCAGVCPA232E93Jpat
• abnormal trabecular bone morphology_Tg(CAG-VCP*A232E)93Jpat/0
  http://metadb.riken.jp/0000130IC57BL6SJLTgCAGVCPA232E93Jpat0TgCAGVCPA232E93Jpat
• myopathy_Tg(CAG-VCP*A232E)93Jpat/0
  http://metadb.riken.jp/0000751IC57BL6SJLTgCAGVCPA232E93Jpat0TgCAGVCPA232E93Jpat
• myopathy_Tg(CAG-VCP*R155H)55Jpat/0
  http://metadb.riken.jp/0000751IC57BL6SJLTgCAGVCPR155H55Jpat0TgCAGVCPR155H55Jpat
• decreased survivor rate_Tg(CAG-VCP*A232E)93Jpat/0
  http://metadb.riken.jp/0008770IC57BL6SJLTgCAGVCPA232E93Jpat0TgCAGVCPA232E93Jpat
• gliosis_Tg(CAG-VCP*R155H)55Jpat/0
  http://metadb.riken.jp/0002183IC57BL6SJLTgCAGVCPR155H55Jpat0TgCAGVCPR155H55Jpat
• abnormal response to novel object_Tg(CAG-VCP*A232E)93Jpat/0
  http://metadb.riken.jp/0003461IC57BL6SJLTgCAGVCPA232E93Jpat0TgCAGVCPA232E93Jpat
• abnormal neuron morphology_Tg(CAG-VCP*R155H)55Jpat/0
  http://metadb.riken.jp/0002882IC57BL6SJLTgCAGVCPR155H55Jpat0TgCAGVCPR155H55Jpat
• increased circulating alkaline phosphatase level_Tg(CAG-VCP*R155H)55Jpat/0
  http://metadb.riken.jp/0002968IC57BL6SJLTgCAGVCPR155H55Jpat0TgCAGVCPR155H55Jpat
• decreased bone trabecula number_Tg(CAG-VCP*R155H)55Jpat/0
  http://metadb.riken.jp/0010869IC57BL6SJLTgCAGVCPR155H55Jpat0TgCAGVCPR155H55Jpat
• increased compact bone thickness_Tg(CAG-VCP*A232E)93Jpat/0
  http://metadb.riken.jp/0004148IC57BL6SJLTgCAGVCPA232E93Jpat0TgCAGVCPA232E93Jpat
• gliosis_Tg(CAG-VCP*A232E)93Jpat/0
  http://metadb.riken.jp/0002183IC57BL6SJLTgCAGVCPA232E93Jpat0TgCAGVCPA232E93Jpat

class

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

• Tg(CAG-VCP)7Jpat
  http://metadb.riken.jp/db/mgi_rdf/MGI:5435088
• Tg(CAG-VCP*R155H)55Jpat
  http://metadb.riken.jp/db/mgi_rdf/MGI:4440439
• Tg(CAG-VCP*A232E)93Jpat
  http://metadb.riken.jp/db/mgi_rdf/MGI:4440440

トランスクリプトームデータ

http://rdf.ncbi.nlm.nih.gov/pubmed/

• CD05953
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD05953