Melissa. Osborne, et.al., Characterization of behavioral and neuromuscular junction phenotypes in a novel allelic series of SMA mouse models., Human molecular genetics, 2012, 21

http://rdf.ncbi.nlm.nih.gov/pubmed/22802075

Melissa. Osborne, et.al., Characterization of behavioral and neuromuscular junction phenotypes in a novel allelic series of SMA mouse models., Human molecular genetics, 2012, 21

pubmed

表現型アノテーション

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

• embryonic lethality, complete penetrance_Smn1<tm4(SMN2)Mrph>/Smn1<tm5(Smn1/SMN2)Mrph>
  http://metadb.riken.jp/0011092I129S6SvEvTacC57BL6JC57BL6NTacSmn1tm4SMN2MrphSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2MrphSmn1tm4SMN2Mrph
• abnormal blood vessel morphology_Smn1<tm5(Smn1/SMN2)Mrph>/Smn1<tm5(Smn1/SMN2)Mrph>
  http://metadb.riken.jp/0001614I129S6SvEvTacC57BL6JC57BL6NTacSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2Mrph
• hyperresponsive to tactile stimuli_Smn1<tm5(Smn1/SMN2)Mrph>/Smn1<tm5(Smn1/SMN2)Mrph>
  http://metadb.riken.jp/0002738I129S6SvEvTacC57BL6JC57BL6NTacSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2Mrph
• epidermal necrosis_Smn1<tm2Mrph>/Smn1<tm6(SMN2)Mrph>
  http://metadb.riken.jp/0001220I129S6SvEvTacC57BL6JC57BL6NTacSmn1tm2MrphSmn1tm6SMN2MrphSmn1tm2MrphSmn1tm6SMN2Mrph
• decreased heart rate_Smn1<tm5(Smn1/SMN2)Mrph>/Smn1<tm5(Smn1/SMN2)Mrph>
  http://metadb.riken.jp/0005333I129S6SvEvTacC57BL6JC57BL6NTacSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2Mrph
• decreased bone mineral content_Smn1<tm5(Smn1/SMN2)Mrph>/Smn1<tm5(Smn1/SMN2)Mrph>
  http://metadb.riken.jp/0010124B6129Smn1tm5Smn1SMN2MrphJSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2Mrph
• epidermal necrosis_Smn1<tm5(Smn1/SMN2)Mrph>/Smn1<tm5(Smn1/SMN2)Mrph>
  http://metadb.riken.jp/0001220I129S6SvEvTacC57BL6JC57BL6NTacSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2Mrph
• abnormal endplate potential_Smn1<tm5(Smn1/SMN2)Mrph>/Smn1<tm5(Smn1/SMN2)Mrph>
  http://metadb.riken.jp/0002914I129S6SvEvTacC57BL6JC57BL6NTacSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2Mrph
• abnormal miniature endplate potential_Smn1<tm5(Smn1/SMN2)Mrph>/Smn1<tm5(Smn1/SMN2)Mrph>
  http://metadb.riken.jp/0004835I129S6SvEvTacC57BL6JC57BL6NTacSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2Mrph
• decreased bone mineral density_Smn1<tm5(Smn1/SMN2)Mrph>/Smn1<tm5(Smn1/SMN2)Mrph>
  http://metadb.riken.jp/0000063FVB129B6Smn1tm5Smn1SMN2MrphJSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2Mrph
• decreased bone mineral content_Smn1<tm5(Smn1/SMN2)Mrph>/Smn1<tm5(Smn1/SMN2)Mrph>
  http://metadb.riken.jp/0010124FVB129B6Smn1tm5Smn1SMN2MrphJSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2Mrph
• hyperalgesia_Smn1<tm5(Smn1/SMN2)Mrph>/Smn1<tm5(Smn1/SMN2)Mrph>
  http://metadb.riken.jp/0005407I129S6SvEvTacC57BL6JC57BL6NTacSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2Mrph
• tail necrosis_Smn1<tm4(SMN2)Mrph>/Smn1<tm6(SMN2)Mrph>
  http://metadb.riken.jp/0013178I129S6SvEvTacC57BL6JC57BL6NTacSmn1tm4SMN2MrphSmn1tm6SMN2MrphSmn1tm4SMN2MrphSmn1tm6SMN2Mrph
• decreased thermal nociceptive threshold_Smn1<tm5(Smn1/SMN2)Mrph>/Smn1<tm5(Smn1/SMN2)Mrph>
  http://metadb.riken.jp/0003998I129S6SvEvTacC57BL6JC57BL6NTacSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2Mrph
• abnormal synaptic transmission_Smn1<tm5(Smn1/SMN2)Mrph>/Smn1<tm5(Smn1/SMN2)Mrph>
  http://metadb.riken.jp/0003635I129S6SvEvTacC57BL6JC57BL6NTacSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2Mrph
• no abnormal phenotype detected_Smn1<tm6(SMN2)Mrph>/Smn1<tm6(SMN2)Mrph>
  http://metadb.riken.jp/0002169I129S6SvEvTacC57BL6JC57BL6NTacSmn1tm6SMN2MrphSmn1tm6SMN2MrphSmn1tm6SMN2Mrph
• epidermal necrosis_Smn1<tm4(SMN2)Mrph>/Smn1<tm6(SMN2)Mrph>
  http://metadb.riken.jp/0001220I129S6SvEvTacC57BL6JC57BL6NTacSmn1tm4SMN2MrphSmn1tm6SMN2MrphSmn1tm4SMN2MrphSmn1tm6SMN2Mrph
• embryonic lethality, complete penetrance_Smn1<tm2Mrph>/Smn1<tm2Mrph>
  http://metadb.riken.jp/0011092I129S6SvEvTacC57BL6JC57BL6NTacSmn1tm2MrphSmn1tm2MrphSmn1tm2Mrph
• embryonic lethality, complete penetrance_Smn1<tm4(SMN2)Mrph>/Smn1<tm4(SMN2)Mrph>
  http://metadb.riken.jp/0011092I129S6SvEvTacC57BL6JC57BL6NTacSmn1tm4SMN2MrphSmn1tm4SMN2MrphSmn1tm4SMN2Mrph
• embryonic lethality, complete penetrance_Smn1<tm2Mrph>/Smn1<tm4(SMN2)Mrph>
  http://metadb.riken.jp/0011092I129S6SvEvTacC57BL6JC57BL6NTacSmn1tm2MrphSmn1tm4SMN2MrphSmn1tm2MrphSmn1tm4SMN2Mrph
• epidermal necrosis_Smn1<tm5(Smn1/SMN2)Mrph>/Smn1<tm6(SMN2)Mrph>
  http://metadb.riken.jp/0001220I129S6SvEvTacC57BL6JC57BL6NTacSmn1tm5Smn1SMN2MrphSmn1tm6SMN2MrphSmn1tm5Smn1SMN2MrphSmn1tm6SMN2Mrph
• abnormal neuromuscular synapse morphology_Smn1<tm5(Smn1/SMN2)Mrph>/Smn1<tm5(Smn1/SMN2)Mrph>
  http://metadb.riken.jp/0001053I129S6SvEvTacC57BL6JC57BL6NTacSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2Mrph
• decreased skeletal muscle fiber size_Smn1<tm5(Smn1/SMN2)Mrph>/Smn1<tm5(Smn1/SMN2)Mrph>
  http://metadb.riken.jp/0009400I129S6SvEvTacC57BL6JC57BL6NTacSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2Mrph
• enhanced coordination_Smn1<tm5(Smn1/SMN2)Mrph>/Smn1<tm5(Smn1/SMN2)Mrph>
  http://metadb.riken.jp/0003858I129S6SvEvTacC57BL6JC57BL6NTacSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2Mrph
• decreased body size_Smn1<tm5(Smn1/SMN2)Mrph>/Smn1<tm5(Smn1/SMN2)Mrph>
  http://metadb.riken.jp/0001265I129S6SvEvTacC57BL6JC57BL6NTacSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2Mrph
• tail necrosis_Smn1<tm5(Smn1/SMN2)Mrph>/Smn1<tm6(SMN2)Mrph>
  http://metadb.riken.jp/0013178I129S6SvEvTacC57BL6JC57BL6NTacSmn1tm5Smn1SMN2MrphSmn1tm6SMN2MrphSmn1tm5Smn1SMN2MrphSmn1tm6SMN2Mrph
• tail necrosis_Smn1<tm2Mrph>/Smn1<tm6(SMN2)Mrph>
  http://metadb.riken.jp/0013178I129S6SvEvTacC57BL6JC57BL6NTacSmn1tm2MrphSmn1tm6SMN2MrphSmn1tm2MrphSmn1tm6SMN2Mrph
• embryonic lethality, complete penetrance_Smn1<tm2Mrph>/Smn1<tm5(Smn1/SMN2)Mrph>
  http://metadb.riken.jp/0011092I129S6SvEvTacC57BL6JC57BL6NTacSmn1tm2MrphSmn1tm5Smn1SMN2MrphSmn1tm2MrphSmn1tm5Smn1SMN2Mrph
• decreased bone mineral density_Smn1<tm5(Smn1/SMN2)Mrph>/Smn1<tm5(Smn1/SMN2)Mrph>
  http://metadb.riken.jp/0000063B6129Smn1tm5Smn1SMN2MrphJSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2Mrph
• tail necrosis_Smn1<tm5(Smn1/SMN2)Mrph>/Smn1<tm5(Smn1/SMN2)Mrph>
  http://metadb.riken.jp/0013178I129S6SvEvTacC57BL6JC57BL6NTacSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2MrphSmn1tm5Smn1SMN2Mrph