William W. Motley, et.al., Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels., PLoS genetics, 2011, 7

http://rdf.ncbi.nlm.nih.gov/pubmed/22144914

William W. Motley, et.al., Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels., PLoS genetics, 2011, 7

pubmed

allele

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

• Tg(CAG-GARS)DRwb
  http://metadb.riken.jp/db/mgi_rdf/MGI:5308112

表現型アノテーション

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

• abnormal axon morphology_Gars<Nmf249>/Gars<+>
  http://metadb.riken.jp/0005404IC57BL6JCASTEiGarsNmf249GarsGarsGarsNmf249
• prenatal lethality_Gars<Gt(XM256)6Byg>/Gars<C201R>
  http://metadb.riken.jp/0002080I129P2OlaHsdBALBcAnNC3HHeHC57BL6JGarsGtXM2566BygGarsC201RGarsGtXM2566BygGarsC201R
• abnormal neuromuscular synapse morphology_Gars<Nmf249>/Gars<+>
  http://metadb.riken.jp/0001053IC57BL6JCASTEiGarsNmf249GarsGarsGarsNmf249
• decreased nerve conduction velocity_Gars<C201R>/Gars<+>,Tg(CAG-GARS)DRwb/0
  http://metadb.riken.jp/0008814IBALBcAnNC3HHeHC57BL6JFVBNGarsC201RGarsTgCAGGARSDRwb0GarsC201RGarsTgCAGGARSDRwb
• abnormal neuromuscular synapse morphology_Gars<C201R>/Gars<Gt(XM256)6Byg>,Tg(CAG-GARS)DRwb/0
  http://metadb.riken.jp/0001053I129P2OlaHsdBALBcAnNC3HHeHC57BL6JFVBNGarsC201RGarsGtXM2566BygTgCAGGARSDRwb0TgCAGGARSDRwbGarsC201RGarsGtXM2566Byg
• abnormal axon morphology_Gars<C201R>/Gars<Nmf249>,Tg(CAG-GARS)DRwb/0
  http://metadb.riken.jp/0005404IBALBcAnNC3HHeHC57BL6JFVBNGarsC201RGarsNmf249TgCAGGARSDRwb0TgCAGGARSDRwbGarsC201RGarsNmf249
• demyelination_Gars<Nmf249>/Gars<+>
  http://metadb.riken.jp/0000921IC57BL6JCASTEiGarsNmf249GarsGarsGarsNmf249
• decreased nerve conduction velocity_Gars<C201R>/Gars<Gt(XM256)6Byg>,Tg(CAG-GARS)DRwb/0
  http://metadb.riken.jp/0008814I129P2OlaHsdBALBcAnNC3HHeHC57BL6JFVBNGarsC201RGarsGtXM2566BygTgCAGGARSDRwb0TgCAGGARSDRwbGarsC201RGarsGtXM2566Byg
• prenatal lethality, incomplete penetrance_Gars<C201R>/Gars<C201R>
  http://metadb.riken.jp/0011101IBALBcAnNC3HHeHC57BL6JGarsC201RGarsC201RGarsC201R
• decreased body weight_Gars<Nmf249>/Gars<+>
  http://metadb.riken.jp/0001262IC57BL6JCASTEiGarsNmf249GarsGarsGarsNmf249
• abnormal neuromuscular synapse morphology_Gars<C201R>/Gars<+>
  http://metadb.riken.jp/0001053IBALBcAnNC3HHeHC57BL6JGarsC201RGarsGarsGarsC201R
• abnormal axon morphology_Gars<C201R>/Gars<Nmf249>
  http://metadb.riken.jp/0005404IBALBcAnNC3HHeHC57BL6JGarsC201RGarsNmf249GarsC201RGarsNmf249
• abnormal axon morphology_Gars<C201R>/Gars<C201R>,Tg(CAG-GARS)DRwb/0
  http://metadb.riken.jp/0005404IBALBcAnNC3HHeHC57BL6JFVBNGarsC201RGarsC201RTgCAGGARSDRwb0TgCAGGARSDRwbGarsC201R
• postnatal lethality, complete penetrance_Gars<C201R>/Gars<C201R>
  http://metadb.riken.jp/0011085IBALBcAnNC3HHeHC57BL6JGarsC201RGarsC201RGarsC201R
• decreased grip strength_Gars<C201R>/Gars<+>
  http://metadb.riken.jp/0010053IBALBcAnNC3HHeHC57BL6JGarsC201RGarsGarsGarsC201R
• decreased body weight_Gars<C201R>/Gars<Nmf249>
  http://metadb.riken.jp/0001262IBALBcAnNC3HHeHC57BL6JGarsC201RGarsNmf249GarsC201RGarsNmf249
• decreased nerve conduction velocity_Gars<C201R>/Gars<+>
  http://metadb.riken.jp/0008814IBALBcAnNC3HHeHC57BL6JGarsC201RGarsGarsGarsC201R
• decreased grip strength_Gars<C201R>/Gars<+>,Tg(CAG-GARS)DRwb/0
  http://metadb.riken.jp/0010053IBALBcAnNC3HHeHC57BL6JFVBNGarsC201RGarsTgCAGGARSDRwb0GarsC201RGarsTgCAGGARSDRwb
• postnatal lethality, complete penetrance_Gars<C201R>/Gars<C201R>,Tg(CAG-GARS)DRwb/0
  http://metadb.riken.jp/0011085IBALBcAnNC3HHeHC57BL6JFVBNGarsC201RGarsC201RTgCAGGARSDRwb0TgCAGGARSDRwbGarsC201R
• decreased body weight_Gars<C201R>/Gars<Gt(XM256)6Byg>,Tg(CAG-GARS)DRwb/0
  http://metadb.riken.jp/0001262I129P2OlaHsdBALBcAnNC3HHeHC57BL6JFVBNGarsC201RGarsGtXM2566BygTgCAGGARSDRwb0TgCAGGARSDRwbGarsC201RGarsGtXM2566Byg
• abnormal neuromuscular synapse morphology_Gars<C201R>/Gars<Nmf249>,Tg(CAG-GARS)DRwb/0
  http://metadb.riken.jp/0001053IBALBcAnNC3HHeHC57BL6JFVBNGarsC201RGarsNmf249TgCAGGARSDRwb0TgCAGGARSDRwbGarsC201RGarsNmf249
• decreased nerve conduction velocity_Gars<C201R>/Gars<C201R>,Tg(CAG-GARS)DRwb/0
  http://metadb.riken.jp/0008814IBALBcAnNC3HHeHC57BL6JFVBNGarsC201RGarsC201RTgCAGGARSDRwb0TgCAGGARSDRwbGarsC201R
• decreased body weight_Gars<Nmf249>/Gars<+>,Tg(CAG-GARS)DRwb/0
  http://metadb.riken.jp/0001262IC57BL6JCASTEiFVBNGarsNmf249GarsTgCAGGARSDRwb0TgCAGGARSDRwbGarsGarsNmf249
• abnormal neuromuscular synapse morphology_Gars<C201R>/Gars<Nmf249>
  http://metadb.riken.jp/0001053IBALBcAnNC3HHeHC57BL6JGarsC201RGarsNmf249GarsC201RGarsNmf249
• decreased body weight_Gars<C201R>/Gars<Nmf249>,Tg(CAG-GARS)DRwb/0
  http://metadb.riken.jp/0001262IBALBcAnNC3HHeHC57BL6JFVBNGarsC201RGarsNmf249TgCAGGARSDRwb0TgCAGGARSDRwbGarsC201RGarsNmf249
• decreased nerve conduction velocity_Gars<Nmf249>/Gars<+>,Tg(CAG-GARS)DRwb/0
  http://metadb.riken.jp/0008814IC57BL6JCASTEiFVBNGarsNmf249GarsTgCAGGARSDRwb0TgCAGGARSDRwbGarsGarsNmf249
• abnormal axon morphology_Gars<Nmf249>/Gars<+>,Tg(CAG-GARS)DRwb/0
  http://metadb.riken.jp/0005404IC57BL6JCASTEiFVBNGarsNmf249GarsTgCAGGARSDRwb0TgCAGGARSDRwbGarsGarsNmf249
• abnormal neuromuscular synapse morphology_Gars<Nmf249>/Gars<+>,Tg(CAG-GARS)DRwb/0
  http://metadb.riken.jp/0001053IC57BL6JCASTEiFVBNGarsNmf249GarsTgCAGGARSDRwb0TgCAGGARSDRwbGarsGarsNmf249
• abnormal nervous system morphology_Gars<Nmf249>/Gars<+>
  http://metadb.riken.jp/0003632IC57BL6JCASTEiGarsNmf249GarsGarsGarsNmf249
• decreased body weight_Gars<C201R>/Gars<C201R>,Tg(CAG-GARS)DRwb/0
  http://metadb.riken.jp/0001262IBALBcAnNC3HHeHC57BL6JFVBNGarsC201RGarsC201RTgCAGGARSDRwb0TgCAGGARSDRwbGarsC201R
• abnormal neuromuscular synapse morphology_Gars<C201R>/Gars<C201R>,Tg(CAG-GARS)DRwb/0
  http://metadb.riken.jp/0001053IBALBcAnNC3HHeHC57BL6JFVBNGarsC201RGarsC201RTgCAGGARSDRwb0TgCAGGARSDRwbGarsC201R
• decreased nerve conduction velocity_Gars<Nmf249>/Gars<+>
  http://metadb.riken.jp/0008814IC57BL6JCASTEiGarsNmf249GarsGarsGarsNmf249

class

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

• Tg(CAG-GARS)DRwb
  http://metadb.riken.jp/db/mgi_rdf/MGI:5308112