Thomas. Portmann, et.al., Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11.2 deletion syndrome., Cell reports, 2014, 7

http://rdf.ncbi.nlm.nih.gov/pubmed/24794428

Thomas. Portmann, et.al., Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11.2 deletion syndrome., Cell reports, 2014, 7

pubmed

allele

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

• Del(7Coro1a-Spn)1Dolm
  http://metadb.riken.jp/db/mgi_rdf/MGI:5569506
• Igs13<tm1Dolm>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5569502
• Igs14<tm1Dolm>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5569503

class

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

• Del(7Coro1a-Spn)1Dolm
  http://metadb.riken.jp/db/mgi_rdf/MGI:5569506
• Igs13<tm1Dolm>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5569502
• Igs14<tm1Dolm>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5569503

表現型アノテーション

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

• abnormal habituation to a novel object_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0011621B6N129P2CgDel7Coro1aSpn1DolmDel7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• decreased paired-pulse facilitation_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0002920I129P2OlaHsd129S1SvC57BL6NCD1Del7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• abnormal basal ganglion morphology_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0006007I129P2OlaHsd129S1SvC57BL6NCD1Del7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• abnormal nucleus accumbens morphology_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0004080I129P2OlaHsd129S1SvC57BL6NCD1Del7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• no abnormal phenotype detected_Igs13<tm1Dolm>/Igs13<+>,Igs14<tm1Dolm>/Igs14<+>
  http://metadb.riken.jp/0002169I129P2OlaHsdC57BL6NIgs13tm1DolmIgs13Igs14tm1DolmIgs14Igs13tm1DolmIgs13Igs14tm1DolmIgs14
• abnormal response to novel object_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0003461B6N129P2CgDel7Coro1aSpn1DolmDel7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• impaired coordination_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0001405B6N129P2CgDel7Coro1aSpn1DolmDel7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• tremors_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0000745I129P2OlaHsd129S1SvC57BL6NCD1Del7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• thalamus hyperplasia_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0000833I129P2OlaHsd129S1SvC57BL6NCD1Del7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• circling_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0001394B6N129P2CgDel7Coro1aSpn1DolmDel7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• impaired hearing_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0006325B6N129P2CgDel7Coro1aSpn1DolmDel7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• decreased brain weight_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0002175I129P2OlaHsd129S1SvC57BL6NCD1Del7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• increased inferior colliculus size_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0000777I129P2OlaHsd129S1SvC57BL6NCD1Del7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• decreased body length_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0001258I129P2OlaHsd129S1SvC57BL6NCD1Del7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• thickened cerebral cortex_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0000789I129P2OlaHsd129S1SvC57BL6NCD1Del7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• abnormal globus pallidus morphology_Del(7Coro1a-Spn)1Dolm/+,Tg(Drd2-EGFP)S118Gsat/0
  http://metadb.riken.jp/0004081I129P2OlaHsd129S1SvC57BL6NCD1FVBNDel7Coro1aSpn1DolmTgDrd2EGFPS118Gsat0TgDrd2EGFPS118GsatDel7Coro1aSpn1Dolm
• tremors_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0000745B6N129P2CgDel7Coro1aSpn1DolmDel7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• abnormal dorsal striatum morphology_Del(7Coro1a-Spn)1Dolm/+,Tg(Drd2-EGFP)S118Gsat/0
  http://metadb.riken.jp/0004102I129P2OlaHsd129S1SvC57BL6NCD1FVBNDel7Coro1aSpn1DolmTgDrd2EGFPS118Gsat0TgDrd2EGFPS118GsatDel7Coro1aSpn1Dolm
• abnormal excitatory postsynaptic currents_Del(7Coro1a-Spn)1Dolm/+,Tg(Drd2-EGFP)S118Gsat/0
  http://metadb.riken.jp/0002910I129P2OlaHsd129S1SvC57BL6NCD1FVBNDel7Coro1aSpn1DolmTgDrd2EGFPS118Gsat0TgDrd2EGFPS118GsatDel7Coro1aSpn1Dolm
• abnormal excitatory postsynaptic currents_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0002910I129P2OlaHsd129S1SvC57BL6NCD1Del7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• premature death_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0002083I129P2OlaHsd129S1SvC57BL6NCD1Del7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• hyperactivity_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0001399B6N129P2CgDel7Coro1aSpn1DolmDel7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• hypothalamus hyperplasia_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0000839I129P2OlaHsd129S1SvC57BL6NCD1Del7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• abnormal medium spiny neuron morphology_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0008462I129P2OlaHsd129S1SvC57BL6NCD1Del7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• absent startle reflex_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0006359B6N129P2CgDel7Coro1aSpn1DolmDel7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• abnormal miniature excitatory postsynaptic currents_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0004753I129P2OlaHsd129S1SvC57BL6NCD1Del7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• abnormal ventral striatum morphology_Del(7Coro1a-Spn)1Dolm/+,Tg(Drd2-EGFP)S118Gsat/0
  http://metadb.riken.jp/0004103I129P2OlaHsd129S1SvC57BL6NCD1FVBNDel7Coro1aSpn1DolmTgDrd2EGFPS118Gsat0TgDrd2EGFPS118GsatDel7Coro1aSpn1Dolm
• decreased grooming behavior_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0001442B6N129P2CgDel7Coro1aSpn1DolmDel7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• abnormal abdominal fat pad morphology_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0000010I129P2OlaHsd129S1SvC57BL6NCD1Del7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• decreased body weight_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0001262I129P2OlaHsd129S1SvC57BL6NCD1Del7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• abnormal gait_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0001406B6N129P2CgDel7Coro1aSpn1DolmDel7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• abnormal globus pallidus morphology_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0004081I129P2OlaHsd129S1SvC57BL6NCD1Del7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• increased superior colliculus size_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0000905I129P2OlaHsd129S1SvC57BL6NCD1Del7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• hyperactivity_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0001399I129P2OlaHsd129S1SvC57BL6NCD1Del7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• hypoactivity_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0001402B6N129P2CgDel7Coro1aSpn1DolmDel7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• thin cerebral cortex_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0006254I129P2OlaHsd129S1SvC57BL6NCD1Del7Coro1aSpn1DolmDel7Coro1aSpn1Dolm
• abnormal corpus callosum morphology_Del(7Coro1a-Spn)1Dolm/+
  http://metadb.riken.jp/0000780I129P2OlaHsd129S1SvC57BL6NCD1Del7Coro1aSpn1DolmDel7Coro1aSpn1Dolm