Roger E. Davis, et.al., A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity., Proceedings of the National Academy of Sciences of the United States of America, 2007, 104

http://rdf.ncbi.nlm.nih.gov/pubmed/18032602

Roger E. Davis, et.al., A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity., Proceedings of the National Academy of Sciences of the United States of America, 2007, 104

pubmed

allele

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

• Bbs1<tm1Vcs>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3767672

class

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

• Bbs1<tm1Vcs>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3767672

表現型アノテーション

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

• enlarged third ventricle_Bbs4<tm1Vcs>/Bbs4<tm1Vcs>
  http://metadb.riken.jp/0008536I129S1Sv129X1SvJBbs4tm1VcsBbs4tm1VcsBbs4tm1Vcs
• decreased striatum area_Bbs1<tm1Vcs>/Bbs1<tm1Vcs>
  http://metadb.riken.jp/0012468I129S1Sv129X1SvJBbs1tm1VcsBbs1tm1VcsBbs1tm1Vcs
• retinal outer nuclear layer degeneration_Bbs1<tm1Vcs>/Bbs1<tm1Vcs>
  http://metadb.riken.jp/0008518I129S1Sv129X1SvJBbs1tm1VcsBbs1tm1VcsBbs1tm1Vcs
• increased circulating leptin level_Bbs1<tm1Vcs>/Bbs1<tm1Vcs>
  http://metadb.riken.jp/0005669I129S1Sv129X1SvJBbs1tm1VcsBbs1tm1VcsBbs1tm1Vcs
• male infertility_Bbs1<tm1Vcs>/Bbs1<tm1Vcs>
  http://metadb.riken.jp/0001925I129S1Sv129X1SvJBbs1tm1VcsBbs1tm1VcsBbs1tm1Vcs
• thin cerebral cortex_Bbs1<tm1Vcs>/Bbs1<tm1Vcs>
  http://metadb.riken.jp/0006254I129S1Sv129X1SvJBbs1tm1VcsBbs1tm1VcsBbs1tm1Vcs
• small hippocampus_Bbs4<tm1Vcs>/Bbs4<tm1Vcs>
  http://metadb.riken.jp/0008283I129S1Sv129X1SvJBbs4tm1VcsBbs4tm1VcsBbs4tm1Vcs
• increased heart rate_Bbs1<tm1Vcs>/Bbs1<tm1Vcs>
  http://metadb.riken.jp/0002626I129S1Sv129X1SvJBbs1tm1VcsBbs1tm1VcsBbs1tm1Vcs
• thin cerebral cortex_Bbs4<tm1Vcs>/Bbs4<tm1Vcs>
  http://metadb.riken.jp/0006254I129S1Sv129X1SvJBbs4tm1VcsBbs4tm1VcsBbs4tm1Vcs
• impaired olfaction_Bbs1<tm1Vcs>/Bbs1<tm1Vcs>
  http://metadb.riken.jp/0008544I129S1Sv129X1SvJBbs1tm1VcsBbs1tm1VcsBbs1tm1Vcs
• enlarged lateral ventricles_Mkks<tm1Vcs>/Mkks<tm1Vcs>
  http://metadb.riken.jp/0008535I129S1Sv129X1SvJMkkstm1VcsMkkstm1VcsMkkstm1Vcs
• small hippocampus_Mkks<tm1Vcs>/Mkks<tm1Vcs>
  http://metadb.riken.jp/0008283I129S1Sv129X1SvJMkkstm1VcsMkkstm1VcsMkkstm1Vcs
• enlarged lateral ventricles_Bbs4<tm1Vcs>/Bbs4<tm1Vcs>
  http://metadb.riken.jp/0008535I129S1Sv129X1SvJBbs4tm1VcsBbs4tm1VcsBbs4tm1Vcs
• small hippocampus_Bbs2<tm1Vcs>/Bbs2<tm1Vcs>
  http://metadb.riken.jp/0008283I129S1Sv129X1SvJBbs2tm1VcsBbs2tm1VcsBbs2tm1Vcs
• obese_Bbs1<tm1Vcs>/Bbs1<tm1Vcs>
  http://metadb.riken.jp/0001261I129S1Sv129X1SvJBbs1tm1VcsBbs1tm1VcsBbs1tm1Vcs
• abnormal eye electrophysiology_Bbs1<tm1Vcs>/Bbs1<tm1Vcs>
  http://metadb.riken.jp/0005551I129S1Sv129X1SvJBbs1tm1VcsBbs1tm1VcsBbs1tm1Vcs
• increased brown adipose tissue amount_Bbs1<tm1Vcs>/Bbs1<tm1Vcs>
  http://metadb.riken.jp/0000005I129S1Sv129X1SvJBbs1tm1VcsBbs1tm1VcsBbs1tm1Vcs
• increased total body fat amount_Bbs1<tm1Vcs>/Bbs1<tm1Vcs>
  http://metadb.riken.jp/0010024I129S1Sv129X1SvJBbs1tm1VcsBbs1tm1VcsBbs1tm1Vcs
• decreased striatum area_Mkks<tm1Vcs>/Mkks<tm1Vcs>
  http://metadb.riken.jp/0012468I129S1Sv129X1SvJMkkstm1VcsMkkstm1VcsMkkstm1Vcs
• abnormal basal ganglion morphology_Bbs4<tm1Vcs>/Bbs4<tm1Vcs>
  http://metadb.riken.jp/0006007I129S1Sv129X1SvJBbs4tm1VcsBbs4tm1VcsBbs4tm1Vcs
• enlarged lateral ventricles_Bbs1<tm1Vcs>/Bbs1<tm1Vcs>
  http://metadb.riken.jp/0008535I129S1Sv129X1SvJBbs1tm1VcsBbs1tm1VcsBbs1tm1Vcs
• enlarged third ventricle_Bbs1<tm1Vcs>/Bbs1<tm1Vcs>
  http://metadb.riken.jp/0008536I129S1Sv129X1SvJBbs1tm1VcsBbs1tm1VcsBbs1tm1Vcs
• thin cerebral cortex_Bbs2<tm1Vcs>/Bbs2<tm1Vcs>
  http://metadb.riken.jp/0006254I129S1Sv129X1SvJBbs2tm1VcsBbs2tm1VcsBbs2tm1Vcs
• enlarged third ventricle_Mkks<tm1Vcs>/Mkks<tm1Vcs>
  http://metadb.riken.jp/0008536I129S1Sv129X1SvJMkkstm1VcsMkkstm1VcsMkkstm1Vcs
• thin cerebral cortex_Mkks<tm1Vcs>/Mkks<tm1Vcs>
  http://metadb.riken.jp/0006254I129S1Sv129X1SvJMkkstm1VcsMkkstm1VcsMkkstm1Vcs
• decreased aggression towards mice_Bbs1<tm1Vcs>/Bbs1<tm1Vcs>
  http://metadb.riken.jp/0003863I129S1Sv129X1SvJBbs1tm1VcsBbs1tm1VcsBbs1tm1Vcs
• disorganized photoreceptor inner segment_Bbs1<tm1Vcs>/Bbs1<tm1Vcs>
  http://metadb.riken.jp/0008581I129S1Sv129X1SvJBbs1tm1VcsBbs1tm1VcsBbs1tm1Vcs
• abnormal retinal photoreceptor morphology_Bbs1<tm1Vcs>/Bbs1<tm1Vcs>
  http://metadb.riken.jp/0001004I129S1Sv129X1SvJBbs1tm1VcsBbs1tm1VcsBbs1tm1Vcs
• small hippocampus_Bbs1<tm1Vcs>/Bbs1<tm1Vcs>
  http://metadb.riken.jp/0008283I129S1Sv129X1SvJBbs1tm1VcsBbs1tm1VcsBbs1tm1Vcs
• abnormal basal ganglion morphology_Bbs2<tm1Vcs>/Bbs2<tm1Vcs>
  http://metadb.riken.jp/0006007I129S1Sv129X1SvJBbs2tm1VcsBbs2tm1VcsBbs2tm1Vcs
• increased food intake_Bbs1<tm1Vcs>/Bbs1<tm1Vcs>
  http://metadb.riken.jp/0011939I129S1Sv129X1SvJBbs1tm1VcsBbs1tm1VcsBbs1tm1Vcs
• enlarged third ventricle_Bbs2<tm1Vcs>/Bbs2<tm1Vcs>
  http://metadb.riken.jp/0008536I129S1Sv129X1SvJBbs2tm1VcsBbs2tm1VcsBbs2tm1Vcs
• abnormal cone electrophysiology_Bbs1<tm1Vcs>/Bbs1<tm1Vcs>
  http://metadb.riken.jp/0004022I129S1Sv129X1SvJBbs1tm1VcsBbs1tm1VcsBbs1tm1Vcs
• photoreceptor inner segment degeneration_Bbs1<tm1Vcs>/Bbs1<tm1Vcs>
  http://metadb.riken.jp/0008580I129S1Sv129X1SvJBbs1tm1VcsBbs1tm1VcsBbs1tm1Vcs
• abnormal fat pad morphology_Bbs1<tm1Vcs>/Bbs1<tm1Vcs>
  http://metadb.riken.jp/0005334I129S1Sv129X1SvJBbs1tm1VcsBbs1tm1VcsBbs1tm1Vcs
• absent sperm flagellum_Bbs1<tm1Vcs>/Bbs1<tm1Vcs>
  http://metadb.riken.jp/0008545I129S1Sv129X1SvJBbs1tm1VcsBbs1tm1VcsBbs1tm1Vcs
• abnormal ependyma motile cilium morphology_Bbs1<tm1Vcs>/Bbs1<tm1Vcs>
  http://metadb.riken.jp/0011059I129S1Sv129X1SvJBbs1tm1VcsBbs1tm1VcsBbs1tm1Vcs
• hypoactivity_Bbs1<tm1Vcs>/Bbs1<tm1Vcs>
  http://metadb.riken.jp/0001402I129S1Sv129X1SvJBbs1tm1VcsBbs1tm1VcsBbs1tm1Vcs
• enlarged lateral ventricles_Bbs2<tm1Vcs>/Bbs2<tm1Vcs>
  http://metadb.riken.jp/0008535I129S1Sv129X1SvJBbs2tm1VcsBbs2tm1VcsBbs2tm1Vcs
• abnormal rod electrophysiology_Bbs1<tm1Vcs>/Bbs1<tm1Vcs>
  http://metadb.riken.jp/0004021I129S1Sv129X1SvJBbs1tm1VcsBbs1tm1VcsBbs1tm1Vcs

トランスクリプトームデータ

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

• CD29778
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD29778