Konstantinos. Charizanis, et.al., Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy., Neuron, 2012, 75

http://rdf.ncbi.nlm.nih.gov/pubmed/22884328

Konstantinos. Charizanis, et.al., Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy., Neuron, 2012, 75

pubmed

allele

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

• Mbnl2<tm1.1Sws>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5616630
• Mbnl2<tm1Sws>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5616743

class

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

• Mbnl2<tm1.1Sws>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5616630
• Mbnl2<tm1Sws>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5616743

表現型アノテーション

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

• impaired synaptic plasticity_Mbnl2<tm1.1Sws>/Mbnl2<tm1.1Sws>
  http://metadb.riken.jp/0001900I129S1SvImJBALBcJC57BL6JMbnl2tm11SwsMbnl2tm11SwsMbnl2tm11Sws
• reduced long term potentiation_Mbnl2<tm1.1Sws>/Mbnl2<tm1.1Sws>
  http://metadb.riken.jp/0001473I129S1SvImJBALBcJC57BL6JMbnl2tm11SwsMbnl2tm11SwsMbnl2tm11Sws
• increased susceptibility to pharmacologically induced seizures_Mbnl2<tm1.1Sws>/Mbnl2<+>
  http://metadb.riken.jp/0002906I129S1SvImJBALBcJC57BL6JMbnl2tm11SwsMbnl2Mbnl2Mbnl2tm11Sws
• abnormal paradoxical sleep pattern_Mbnl2<tm1.1Sws>/Mbnl2<tm1.1Sws>
  http://metadb.riken.jp/0012288I129S1SvImJBALBcJC57BL6JMbnl2tm11SwsMbnl2tm11SwsMbnl2tm11Sws
• abnormal excitatory postsynaptic potential_Mbnl2<tm1.1Sws>/Mbnl2<tm1.1Sws>
  http://metadb.riken.jp/0002912I129S1SvImJBALBcJC57BL6JMbnl2tm11SwsMbnl2tm11SwsMbnl2tm11Sws
• abnormal spatial reference memory_Mbnl2<tm1.1Sws>/Mbnl2<tm1.1Sws>
  http://metadb.riken.jp/0008414I129S1SvImJBALBcJC57BL6JMbnl2tm11SwsMbnl2tm11SwsMbnl2tm11Sws
• increased frequency of paradoxical sleep_Mbnl2<tm1.1Sws>/Mbnl2<tm1.1Sws>
  http://metadb.riken.jp/0012287I129S1SvImJBALBcJC57BL6JMbnl2tm11SwsMbnl2tm11SwsMbnl2tm11Sws
• tonic-clonic seizures_Mbnl2<tm1.1Sws>/Mbnl2<tm1.1Sws>
  http://metadb.riken.jp/0003997I129S1SvImJBALBcJC57BL6JMbnl2tm11SwsMbnl2tm11SwsMbnl2tm11Sws
• postnatal lethality, incomplete penetrance_Mbnl2<tm1.1Sws>/Mbnl2<tm1.1Sws>
  http://metadb.riken.jp/0011086I129S1SvImJBALBcJC57BL6JMbnl2tm11SwsMbnl2tm11SwsMbnl2tm11Sws
• increased susceptibility to pharmacologically induced seizures_Mbnl2<tm1.1Sws>/Mbnl2<tm1.1Sws>
  http://metadb.riken.jp/0002906I129S1SvImJBALBcJC57BL6JMbnl2tm11SwsMbnl2tm11SwsMbnl2tm11Sws
• decreased body size_Mbnl2<tm1.1Sws>/Mbnl2<tm1.1Sws>
  http://metadb.riken.jp/0001265I129S1SvImJBALBcJC57BL6JMbnl2tm11SwsMbnl2tm11SwsMbnl2tm11Sws
• fragmentation of sleep/wake states_Mbnl2<tm1.1Sws>/Mbnl2<tm1.1Sws>
  http://metadb.riken.jp/0009436I129S1SvImJBALBcJC57BL6JMbnl2tm11SwsMbnl2tm11SwsMbnl2tm11Sws
• abnormal CNS synaptic transmission_Mbnl2<tm1.1Sws>/Mbnl2<tm1.1Sws>
  http://metadb.riken.jp/0002206I129S1SvImJBALBcJC57BL6JMbnl2tm11SwsMbnl2tm11SwsMbnl2tm11Sws