Romain. Cartoni, et.al., Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A., Brain : a journal of neurology, 2010, 133

http://rdf.ncbi.nlm.nih.gov/pubmed/20418531

Romain. Cartoni, et.al., Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A., Brain : a journal of neurology, 2010, 133

pubmed

allele

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

• Tg(Eno2-MFN2)L916Ugfm
  http://metadb.riken.jp/db/mgi_rdf/MGI:5476630
• Tg(Eno2-MFN2*R94Q)L87Ugfm
  http://metadb.riken.jp/db/mgi_rdf/MGI:5476535

class

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

• Tg(Eno2-MFN2)L916Ugfm
  http://metadb.riken.jp/db/mgi_rdf/MGI:5476630
• Tg(Eno2-MFN2*R94Q)L87Ugfm
  http://metadb.riken.jp/db/mgi_rdf/MGI:5476535

表現型アノテーション

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

• short stride length_Tg(Eno2-MFN2*R94Q)L87Ugfm/Tg(Eno2-MFN2*R94Q)L87Ugfm
  http://metadb.riken.jp/0001407IC57BL6DBA2TgEno2MFN2R94QL87UgfmTgEno2MFN2R94QL87UgfmTgEno2MFN2R94QL87Ugfm
• abnormal axon morphology_Tg(Eno2-MFN2*R94Q)L51Ugfm/Tg(Eno2-MFN2*R94Q)L51Ugfm
  http://metadb.riken.jp/0005404IC57BL6DBA2TgEno2MFN2R94QL51UgfmTgEno2MFN2R94QL51UgfmTgEno2MFN2R94QL51Ugfm
• abnormal axon morphology_Tg(Eno2-MFN2*R94Q)L87Ugfm/Tg(Eno2-MFN2*R94Q)L87Ugfm
  http://metadb.riken.jp/0005404IC57BL6DBA2TgEno2MFN2R94QL87UgfmTgEno2MFN2R94QL87UgfmTgEno2MFN2R94QL87Ugfm
• abnormal gait_Tg(Eno2-MFN2*R94Q)L87Ugfm/Tg(Eno2-MFN2*R94Q)L87Ugfm
  http://metadb.riken.jp/0001406IC57BL6DBA2TgEno2MFN2R94QL87UgfmTgEno2MFN2R94QL87UgfmTgEno2MFN2R94QL87Ugfm
• abnormal nervous system electrophysiology_Tg(Eno2-MFN2*R94Q)L51Ugfm/Tg(Eno2-MFN2*R94Q)L51Ugfm
  http://metadb.riken.jp/0002272IC57BL6DBA2TgEno2MFN2R94QL51UgfmTgEno2MFN2R94QL51UgfmTgEno2MFN2R94QL51Ugfm
• impaired coordination_Tg(Eno2-MFN2*R94Q)L51Ugfm/Tg(Eno2-MFN2*R94Q)L51Ugfm
  http://metadb.riken.jp/0001405IC57BL6DBA2TgEno2MFN2R94QL51UgfmTgEno2MFN2R94QL51UgfmTgEno2MFN2R94QL51Ugfm
• tail dragging_Tg(Eno2-MFN2*R94Q)L87Ugfm/Tg(Eno2-MFN2*R94Q)L87Ugfm
  http://metadb.riken.jp/0005507IC57BL6DBA2TgEno2MFN2R94QL87UgfmTgEno2MFN2R94QL87UgfmTgEno2MFN2R94QL87Ugfm
• increased mitochondria number_Tg(Eno2-MFN2*R94Q)L51Ugfm/Tg(Eno2-MFN2*R94Q)L51Ugfm
  http://metadb.riken.jp/0011628IC57BL6DBA2TgEno2MFN2R94QL51UgfmTgEno2MFN2R94QL51UgfmTgEno2MFN2R94QL51Ugfm
• increased mitochondria number_Tg(Eno2-MFN2*R94Q)L87Ugfm/Tg(Eno2-MFN2*R94Q)L87Ugfm
  http://metadb.riken.jp/0011628IC57BL6DBA2TgEno2MFN2R94QL87UgfmTgEno2MFN2R94QL87UgfmTgEno2MFN2R94QL87Ugfm
• axon degeneration_Tg(Eno2-MFN2*R94Q)L51Ugfm/Tg(Eno2-MFN2*R94Q)L51Ugfm
  http://metadb.riken.jp/0005405IC57BL6DBA2TgEno2MFN2R94QL51UgfmTgEno2MFN2R94QL51UgfmTgEno2MFN2R94QL51Ugfm
• axon degeneration_Tg(Eno2-MFN2*R94Q)L87Ugfm/Tg(Eno2-MFN2*R94Q)L87Ugfm
  http://metadb.riken.jp/0005405IC57BL6DBA2TgEno2MFN2R94QL87UgfmTgEno2MFN2R94QL87UgfmTgEno2MFN2R94QL87Ugfm
• abnormal posture_Tg(Eno2-MFN2*R94Q)L87Ugfm/Tg(Eno2-MFN2*R94Q)L87Ugfm
  http://metadb.riken.jp/0001504IC57BL6DBA2TgEno2MFN2R94QL87UgfmTgEno2MFN2R94QL87UgfmTgEno2MFN2R94QL87Ugfm
• impaired coordination_Tg(Eno2-MFN2*R94Q)L87Ugfm/Tg(Eno2-MFN2*R94Q)L87Ugfm
  http://metadb.riken.jp/0001405IC57BL6DBA2TgEno2MFN2R94QL87UgfmTgEno2MFN2R94QL87UgfmTgEno2MFN2R94QL87Ugfm