Alison J. Ross, et.al., Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates., Nature genetics, 2005, 37

http://rdf.ncbi.nlm.nih.gov/pubmed/16170314

Alison J. Ross, et.al., Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates., Nature genetics, 2005, 37

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

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

allele

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

• Mkks<Gt(OST367255)Lex>
  http://metadb.riken.jp/db/mgi_rdf/MGI:3608879

表現型アノテーション

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

• abnormal inner hair cell kinocilium morphology_Mkks<Gt(OST367255)Lex>/Mkks<Gt(OST367255)Lex>
  http://metadb.riken.jp/0011061I129S5SvEvBrdC57BL6JMkksGtOST367255LexMkksGtOST367255LexMkksGtOST367255Lex
• abnormal orientation of outer hair cell stereociliary bundles_Bbs4<Gt1Nk>/Bbs4<Gt1Nk>
  http://metadb.riken.jp/0004491I129S7SvEvBrdBbs4Gt1NkBbs4Gt1NkBbs4Gt1Nk
• abnormal outer hair cell stereociliary bundle morphology_Vangl2<Lp>/Vangl2<+>,Mkks<Gt(OST367255)Lex>/Mkks<+>
  http://metadb.riken.jp/0004527I129S5SvEvBrdC57BL6JLPTLeJVangl2LpVangl2MkksGtOST367255LexMkksMkksVangl2LpVangl2MkksGtOST367255Lex
• abnormal orientation of outer hair cell stereociliary bundles_Bbs1<Gt1Nk>/Bbs1<Gt1Nk>
  http://metadb.riken.jp/0004491I129S7SvEvBrdBbs1Gt1NkBbs1Gt1NkBbs1Gt1Nk
• abnormal outer hair cell stereociliary bundle morphology_Bbs1<Gt1Nk>/Bbs1<Gt1Nk>
  http://metadb.riken.jp/0004527I129S7SvEvBrdBbs1Gt1NkBbs1Gt1NkBbs1Gt1Nk
• abnormal orientation of outer hair cell stereociliary bundles_Mkks<Gt(OST367255)Lex>/Mkks<Gt(OST367255)Lex>
  http://metadb.riken.jp/0004491I129S5SvEvBrdC57BL6JMkksGtOST367255LexMkksGtOST367255LexMkksGtOST367255Lex
• embryonic lethality during organogenesis, complete penetrance_Vangl2<Lp>/Vangl2<+>,Mkks<Gt(OST367255)Lex>/Mkks<+>
  http://metadb.riken.jp/0011098I129S5SvEvBrdC57BL6JLPTLeJVangl2LpVangl2MkksGtOST367255LexMkksMkksVangl2LpVangl2MkksGtOST367255Lex
• retinal degeneration_Mkks<Gt(OST367255)Lex>/Mkks<Gt(OST367255)Lex>
  http://metadb.riken.jp/0001326I129S5SvEvBrdC57BL6JMkksGtOST367255LexMkksGtOST367255LexMkksGtOST367255Lex
• abnormal olfactory epithelium morphology_Mkks<Gt(OST367255)Lex>/Mkks<Gt(OST367255)Lex>
  http://metadb.riken.jp/0008789I129S5SvEvBrdC57BL6JMkksGtOST367255LexMkksGtOST367255LexMkksGtOST367255Lex
• anosmia_Mkks<Gt(OST367255)Lex>/Mkks<Gt(OST367255)Lex>
  http://metadb.riken.jp/0004512I129S5SvEvBrdC57BL6JMkksGtOST367255LexMkksGtOST367255LexMkksGtOST367255Lex
• eyelids open at birth_Mkks<Gt(OST367255)Lex>/Mkks<Gt(OST367255)Lex>
  http://metadb.riken.jp/0001302I129S5SvEvBrdC57BL6JMkksGtOST367255LexMkksGtOST367255LexMkksGtOST367255Lex
• absent distortion product otoacoustic emissions_Mkks<Gt(OST367255)Lex>/Mkks<Gt(OST367255)Lex>
  http://metadb.riken.jp/0004737I129S5SvEvBrdC57BL6JMkksGtOST367255LexMkksGtOST367255LexMkksGtOST367255Lex
• abnormal outer hair cell stereociliary bundle morphology_Bbs1<Gt1Nk>/Bbs1<+>,Vangl2<Lp>/Vangl2<+>
  http://metadb.riken.jp/0004527I129S7SvEvBrdLPTLeJBbs1Gt1NkBbs1Vangl2LpVangl2Bbs1Gt1NkVangl2Bbs1Vangl2Lp
• abnormal orientation of outer hair cell stereociliary bundles_Bbs1<Gt1Nk>/Bbs1<+>,Vangl2<Lp>/Vangl2<+>
  http://metadb.riken.jp/0004491I129S7SvEvBrdLPTLeJBbs1Gt1NkBbs1Vangl2LpVangl2Bbs1Gt1NkVangl2Bbs1Vangl2Lp
• embryonic lethality during organogenesis, incomplete penetrance_Bbs1<Gt1Nk>/Bbs1<+>,Vangl2<Lp>/Vangl2<+>
  http://metadb.riken.jp/0011108I129S7SvEvBrdLPTLeJBbs1Gt1NkBbs1Vangl2LpVangl2Bbs1Gt1NkVangl2Bbs1Vangl2Lp
• exencephaly_Mkks<Gt(OST367255)Lex>/Mkks<Gt(OST367255)Lex>
  http://metadb.riken.jp/0000914I129S5SvEvBrdC57BL6JMkksGtOST367255LexMkksGtOST367255LexMkksGtOST367255Lex
• abnormal orientation of outer hair cell stereociliary bundles_Vangl2<Lp>/Vangl2<+>,Mkks<Gt(OST367255)Lex>/Mkks<+>
  http://metadb.riken.jp/0004491I129S5SvEvBrdC57BL6JLPTLeJVangl2LpVangl2MkksGtOST367255LexMkksMkksVangl2LpVangl2MkksGtOST367255Lex
• absent pinna reflex_Mkks<Gt(OST367255)Lex>/Mkks<Gt(OST367255)Lex>
  http://metadb.riken.jp/0006358I129S5SvEvBrdC57BL6JMkksGtOST367255LexMkksGtOST367255LexMkksGtOST367255Lex