Umrao R. Monani, et.al., A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy., The Journal of cell biology, 2003, 160

http://rdf.ncbi.nlm.nih.gov/pubmed/12515823

Umrao R. Monani, et.al., A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy., The Journal of cell biology, 2003, 160

pubmed

allele

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

• Tg(SMN1*A2G)2023Ahmb
  http://metadb.riken.jp/db/mgi_rdf/MGI:2448969

表現型アノテーション

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

• hypoactivity_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1*A2G)2023Ahmb/0,Grm7<Tg(SMN2)89Ahmb>/0
  http://metadb.riken.jp/0001402I129P2OlaHsdFVBNSmn1tm1MsdSmn1tm1MsdTgSMN1A2G2023Ahmb0Grm7TgSMN289Ahmb0Smn1tm1MsdGrm7TgSMN289AhmbTgSMN1A2G2023Ahmb
• neuronal intranuclear inclusions_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1*A2G)2023Ahmb/0,Grm7<Tg(SMN2)89Ahmb>/0
  http://metadb.riken.jp/0004191I129P2OlaHsdFVBNSmn1tm1MsdSmn1tm1MsdTgSMN1A2G2023Ahmb0Grm7TgSMN289Ahmb0Smn1tm1MsdGrm7TgSMN289AhmbTgSMN1A2G2023Ahmb
• abnormal muscle electrophysiology_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1*A2G)2023Ahmb/0,Grm7<Tg(SMN2)89Ahmb>/0
  http://metadb.riken.jp/0004145I129P2OlaHsdFVBNSmn1tm1MsdSmn1tm1MsdTgSMN1A2G2023Ahmb0Grm7TgSMN289Ahmb0Smn1tm1MsdGrm7TgSMN289AhmbTgSMN1A2G2023Ahmb
• premature death_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1*A2G)2023Ahmb/0,Grm7<Tg(SMN2)89Ahmb>/0
  http://metadb.riken.jp/0002083I129P2OlaHsdFVBNSmn1tm1MsdSmn1tm1MsdTgSMN1A2G2023Ahmb0Grm7TgSMN289Ahmb0Smn1tm1MsdGrm7TgSMN289AhmbTgSMN1A2G2023Ahmb
• muscular atrophy_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1*A2G)2023Ahmb/0,Grm7<Tg(SMN2)89Ahmb>/0
  http://metadb.riken.jp/0002269I129P2OlaHsdFVBNSmn1tm1MsdSmn1tm1MsdTgSMN1A2G2023Ahmb0Grm7TgSMN289Ahmb0Smn1tm1MsdGrm7TgSMN289AhmbTgSMN1A2G2023Ahmb
• abnormal motor nerve collateral sprouting_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1*A2G)2023Ahmb/Tg(SMN1*A2G)2023Ahmb,Grm7<Tg(SMN2)89Ahmb>/?
  http://metadb.riken.jp/0004243I129P2OlaHsdFVBNSmn1tm1MsdSmn1tm1MsdTgSMN1A2G2023AhmbTgSMN1A2G2023AhmbGrm7TgSMN289AhmbSmn1tm1MsdGrm7TgSMN289AhmbTgSMN1A2G2023Ahmb
• weight loss_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1*A2G)2023Ahmb/0,Grm7<Tg(SMN2)89Ahmb>/0
  http://metadb.riken.jp/0001263I129P2OlaHsdFVBNSmn1tm1MsdSmn1tm1MsdTgSMN1A2G2023Ahmb0Grm7TgSMN289Ahmb0Smn1tm1MsdGrm7TgSMN289AhmbTgSMN1A2G2023Ahmb
• abnormal action potential_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1*A2G)2023Ahmb/0,Grm7<Tg(SMN2)89Ahmb>/0
  http://metadb.riken.jp/0005402I129P2OlaHsdFVBNSmn1tm1MsdSmn1tm1MsdTgSMN1A2G2023Ahmb0Grm7TgSMN289Ahmb0Smn1tm1MsdGrm7TgSMN289AhmbTgSMN1A2G2023Ahmb
• poor grooming_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1*A2G)2023Ahmb/0,Grm7<Tg(SMN2)89Ahmb>/0
  http://metadb.riken.jp/0001443I129P2OlaHsdFVBNSmn1tm1MsdSmn1tm1MsdTgSMN1A2G2023Ahmb0Grm7TgSMN289Ahmb0Smn1tm1MsdGrm7TgSMN289AhmbTgSMN1A2G2023Ahmb
• decreased motor neuron number_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1*A2G)2023Ahmb/0,Grm7<Tg(SMN2)89Ahmb>/0
  http://metadb.riken.jp/0000939I129P2OlaHsdFVBNSmn1tm1MsdSmn1tm1MsdTgSMN1A2G2023Ahmb0Grm7TgSMN289Ahmb0Smn1tm1MsdGrm7TgSMN289AhmbTgSMN1A2G2023Ahmb
• reduced fertility_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1*A2G)2023Ahmb/0,Grm7<Tg(SMN2)89Ahmb>/0
  http://metadb.riken.jp/0001921I129P2OlaHsdFVBNSmn1tm1MsdSmn1tm1MsdTgSMN1A2G2023Ahmb0Grm7TgSMN289Ahmb0Smn1tm1MsdGrm7TgSMN289AhmbTgSMN1A2G2023Ahmb
• limb grasping_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1*A2G)2023Ahmb/0,Grm7<Tg(SMN2)89Ahmb>/0
  http://metadb.riken.jp/0001513I129P2OlaHsdFVBNSmn1tm1MsdSmn1tm1MsdTgSMN1A2G2023Ahmb0Grm7TgSMN289Ahmb0Smn1tm1MsdGrm7TgSMN289AhmbTgSMN1A2G2023Ahmb
• abnormal motor nerve collateral sprouting_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1*A2G)2023Ahmb/0,Grm7<Tg(SMN2)89Ahmb>/0
  http://metadb.riken.jp/0004243I129P2OlaHsdFVBNSmn1tm1MsdSmn1tm1MsdTgSMN1A2G2023Ahmb0Grm7TgSMN289Ahmb0Smn1tm1MsdGrm7TgSMN289AhmbTgSMN1A2G2023Ahmb
• motor neuron degeneration_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1*A2G)2023Ahmb/0,Grm7<Tg(SMN2)89Ahmb>/0
  http://metadb.riken.jp/0000938I129P2OlaHsdFVBNSmn1tm1MsdSmn1tm1MsdTgSMN1A2G2023Ahmb0Grm7TgSMN289Ahmb0Smn1tm1MsdGrm7TgSMN289AhmbTgSMN1A2G2023Ahmb
• abnormal motor neuron morphology_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1*A2G)2023Ahmb/0,Grm7<Tg(SMN2)89Ahmb>/0
  http://metadb.riken.jp/0000937I129P2OlaHsdFVBNSmn1tm1MsdSmn1tm1MsdTgSMN1A2G2023Ahmb0Grm7TgSMN289Ahmb0Smn1tm1MsdGrm7TgSMN289AhmbTgSMN1A2G2023Ahmb
• embryonic lethality, complete penetrance_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1*A2G)2023Ahmb/?
  http://metadb.riken.jp/0011092I129P2OlaHsdFVBNSmn1tm1MsdSmn1tm1MsdTgSMN1A2G2023AhmbTgSMN1A2G2023AhmbSmn1tm1Msd
• abnormal neuromuscular synapse morphology_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1*A2G)2023Ahmb/0,Grm7<Tg(SMN2)89Ahmb>/0
  http://metadb.riken.jp/0001053I129P2OlaHsdFVBNSmn1tm1MsdSmn1tm1MsdTgSMN1A2G2023Ahmb0Grm7TgSMN289Ahmb0Smn1tm1MsdGrm7TgSMN289AhmbTgSMN1A2G2023Ahmb
• hypopnea_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1*A2G)2023Ahmb/0,Grm7<Tg(SMN2)89Ahmb>/0
  http://metadb.riken.jp/0001956I129P2OlaHsdFVBNSmn1tm1MsdSmn1tm1MsdTgSMN1A2G2023Ahmb0Grm7TgSMN289Ahmb0Smn1tm1MsdGrm7TgSMN289AhmbTgSMN1A2G2023Ahmb
• decreased body size_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1*A2G)2023Ahmb/0,Grm7<Tg(SMN2)89Ahmb>/0
  http://metadb.riken.jp/0001265I129P2OlaHsdFVBNSmn1tm1MsdSmn1tm1MsdTgSMN1A2G2023Ahmb0Grm7TgSMN289Ahmb0Smn1tm1MsdGrm7TgSMN289AhmbTgSMN1A2G2023Ahmb
• abnormal axon morphology_Smn1<tm1Msd>/Smn1<tm1Msd>,Tg(SMN1*A2G)2023Ahmb/0,Grm7<Tg(SMN2)89Ahmb>/0
  http://metadb.riken.jp/0005404I129P2OlaHsdFVBNSmn1tm1MsdSmn1tm1MsdTgSMN1A2G2023Ahmb0Grm7TgSMN289Ahmb0Smn1tm1MsdGrm7TgSMN289AhmbTgSMN1A2G2023Ahmb

class

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

• Tg(SMN1*A2G)2023Ahmb
  http://metadb.riken.jp/db/mgi_rdf/MGI:2448969