Guy M. Lenk, et.al., Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J., PLoS genetics, 2011, 7

http://rdf.ncbi.nlm.nih.gov/pubmed/21655088

Guy M. Lenk, et.al., Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J., PLoS genetics, 2011, 7

pubmed

allele

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

• Tg(ACTB-Fig4*I41T)705Mm
  http://metadb.riken.jp/db/mgi_rdf/MGI:5014487
• Tg(ACTB-Fig4*I41T)721Mm
  http://metadb.riken.jp/db/mgi_rdf/MGI:5014489

class

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

• Tg(ACTB-Fig4*I41T)705Mm
  http://metadb.riken.jp/db/mgi_rdf/MGI:5014487
• Tg(ACTB-Fig4*I41T)721Mm
  http://metadb.riken.jp/db/mgi_rdf/MGI:5014489

表現型アノテーション

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

• hypopigmentation_Fig4<plt1>/Fig4<plt1>,Tg(ACTB-Fig4*I41T)721Mm/0
  http://metadb.riken.jp/0005408I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1TgACTBFig4I41T721Mm0TgACTBFig4I41T721MmFig4plt1
• abnormal sciatic nerve morphology_Fig4<plt1>/Fig4<plt1>
  http://metadb.riken.jp/0002651I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1Fig4plt1
• decreased nerve conduction velocity_Fig4<plt1>/Fig4<plt1>,Tg(ACTB-Fig4*I41T)705Mm/0
  http://metadb.riken.jp/0008814I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1TgACTBFig4I41T705Mm0Fig4plt1TgACTBFig4I41T705Mm
• neurodegeneration_Fig4<plt1>/Fig4<plt1>
  http://metadb.riken.jp/0002229I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1Fig4plt1
• spongiform encephalopathy_Fig4<plt1>/Fig4<plt1>
  http://metadb.riken.jp/0002654I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1Fig4plt1
• neurodegeneration_Fig4<plt1>/Fig4<plt1>,Tg(ACTB-Fig4*I41T)721Mm/0
  http://metadb.riken.jp/0002229I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1TgACTBFig4I41T721Mm0TgACTBFig4I41T721MmFig4plt1
• decreased nerve conduction velocity_Fig4<plt1>/Fig4<plt1>
  http://metadb.riken.jp/0008814I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1Fig4plt1
• hypopigmentation_Fig4<plt1>/Fig4<plt1>
  http://metadb.riken.jp/0005408I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1Fig4plt1
• abnormal brain morphology_Fig4<plt1>/Fig4<plt1>,Tg(ACTB-Fig4*I41T)705Mm/0
  http://metadb.riken.jp/0002152I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1TgACTBFig4I41T705Mm0Fig4plt1TgACTBFig4I41T705Mm
• abnormal myelin sheath morphology_Fig4<plt1>/Fig4<plt1>
  http://metadb.riken.jp/0003871I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1Fig4plt1
• diluted coat color_Fig4<plt1>/Fig4<plt1>
  http://metadb.riken.jp/0000371I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1Fig4plt1
• astrocytosis_Fig4<plt1>/Fig4<plt1>,Tg(ACTB-Fig4*I41T)705Mm/0
  http://metadb.riken.jp/0003354I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1TgACTBFig4I41T705Mm0Fig4plt1TgACTBFig4I41T705Mm
• hydroencephaly_Fig4<plt1>/Fig4<plt1>,Tg(ACTB-Fig4*I41T)721Mm/0
  http://metadb.riken.jp/0001891I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1TgACTBFig4I41T721Mm0TgACTBFig4I41T721MmFig4plt1
• premature death_Fig4<plt1>/Fig4<plt1>
  http://metadb.riken.jp/0002083I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1Fig4plt1
• spongiform encephalopathy_Fig4<plt1>/Fig4<plt1>,Tg(ACTB-Fig4*I41T)705Mm/0
  http://metadb.riken.jp/0002654I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1TgACTBFig4I41T705Mm0Fig4plt1TgACTBFig4I41T705Mm
• domed cranium_Fig4<plt1>/Fig4<plt1>,Tg(ACTB-Fig4*I41T)705Mm/0
  http://metadb.riken.jp/0000440I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1TgACTBFig4I41T705Mm0Fig4plt1TgACTBFig4I41T705Mm
• spongiform encephalopathy_Fig4<plt1>/Fig4<plt1>,Tg(ACTB-Fig4*I41T)721Mm/0
  http://metadb.riken.jp/0002654I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1TgACTBFig4I41T721Mm0TgACTBFig4I41T721MmFig4plt1
• diluted coat color_Fig4<plt1>/Fig4<plt1>,Tg(ACTB-Fig4*I41T)705Mm/0
  http://metadb.riken.jp/0000371I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1TgACTBFig4I41T705Mm0Fig4plt1TgACTBFig4I41T705Mm
• neuron degeneration_Fig4<plt1>/Fig4<plt1>
  http://metadb.riken.jp/0003224I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1Fig4plt1
• enlarged lateral ventricles_Fig4<plt1>/Fig4<plt1>,Tg(ACTB-Fig4*I41T)705Mm/0
  http://metadb.riken.jp/0008535I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1TgACTBFig4I41T705Mm0Fig4plt1TgACTBFig4I41T705Mm
• premature death_Fig4<plt1>/Fig4<plt1>,Tg(ACTB-Fig4*I41T)705Mm/0
  http://metadb.riken.jp/0002083I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1TgACTBFig4I41T705Mm0Fig4plt1TgACTBFig4I41T705Mm
• hydroencephaly_Fig4<plt1>/Fig4<plt1>,Tg(ACTB-Fig4*I41T)705Mm/0
  http://metadb.riken.jp/0001891I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1TgACTBFig4I41T705Mm0Fig4plt1TgACTBFig4I41T705Mm
• decreased nerve conduction velocity_Fig4<plt1>/Fig4<plt1>,Tg(ACTB-Fig4*I41T)721Mm/0
  http://metadb.riken.jp/0008814I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1TgACTBFig4I41T721Mm0TgACTBFig4I41T721MmFig4plt1
• hypopigmentation_Fig4<plt1>/Fig4<plt1>,Tg(ACTB-Fig4*I41T)705Mm/0
  http://metadb.riken.jp/0005408I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1TgACTBFig4I41T705Mm0Fig4plt1TgACTBFig4I41T705Mm
• astrocytosis_Fig4<plt1>/Fig4<plt1>
  http://metadb.riken.jp/0003354I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1Fig4plt1
• abnormal brain morphology_Fig4<plt1>/Fig4<plt1>
  http://metadb.riken.jp/0002152I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1Fig4plt1
• neurodegeneration_Fig4<plt1>/Fig4<plt1>,Tg(ACTB-Fig4*I41T)705Mm/0
  http://metadb.riken.jp/0002229I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1TgACTBFig4I41T705Mm0Fig4plt1TgACTBFig4I41T705Mm
• astrocytosis_Fig4<plt1>/Fig4<plt1>,Tg(ACTB-Fig4*I41T)721Mm/0
  http://metadb.riken.jp/0003354I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1TgACTBFig4I41T721Mm0TgACTBFig4I41T721MmFig4plt1
• abnormal brain morphology_Fig4<plt1>/Fig4<plt1>,Tg(ACTB-Fig4*I41T)721Mm/0
  http://metadb.riken.jp/0002152I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1TgACTBFig4I41T721Mm0TgACTBFig4I41T721MmFig4plt1
• enlarged lateral ventricles_Fig4<plt1>/Fig4<plt1>,Tg(ACTB-Fig4*I41T)721Mm/0
  http://metadb.riken.jp/0008535I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1TgACTBFig4I41T721Mm0TgACTBFig4I41T721MmFig4plt1