Dean. Bok, et.al., Blindness and auditory impairment caused by loss of the sodium bicarbonate cotransporter NBC3., Nature genetics, 2003, 34

http://rdf.ncbi.nlm.nih.gov/pubmed/12808454

Dean. Bok, et.al., Blindness and auditory impairment caused by loss of the sodium bicarbonate cotransporter NBC3., Nature genetics, 2003, 34

pubmed

allele

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

• Slc4a7<tm1Krtz>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2682641

class

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

• Slc4a7<tm1Krtz>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2682641

表現型アノテーション

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

• abnormal stria vascularis morphology_Slc4a7<tm1Krtz>/Slc4a7<tm1Krtz>
  http://metadb.riken.jp/0000048I129S5SvEvBrdC57BL6Slc4a7tm1KrtzSlc4a7tm1KrtzSlc4a7tm1Krtz
• cochlear hair cell degeneration_Slc4a7<tm1Krtz>/Slc4a7<tm1Krtz>
  http://metadb.riken.jp/0004362I129S5SvEvBrdC57BL6Slc4a7tm1KrtzSlc4a7tm1KrtzSlc4a7tm1Krtz
• increased or absent threshold for auditory brainstem response_Slc4a7<tm1Krtz>/Slc4a7<tm1Krtz>
  http://metadb.riken.jp/0011967I129S5SvEvBrdC57BL6Slc4a7tm1KrtzSlc4a7tm1KrtzSlc4a7tm1Krtz
• cochlear inner hair cell degeneration_Slc4a7<tm1Krtz>/Slc4a7<tm1Krtz>
  http://metadb.riken.jp/0004398I129S5SvEvBrdC57BL6Slc4a7tm1KrtzSlc4a7tm1KrtzSlc4a7tm1Krtz
• photoreceptor outer segment degeneration_Slc4a7<tm1Krtz>/Slc4a7<tm1Krtz>
  http://metadb.riken.jp/0008584I129S5SvEvBrdC57BL6Slc4a7tm1KrtzSlc4a7tm1KrtzSlc4a7tm1Krtz
• abnormal retinal apoptosis_Slc4a7<tm1Krtz>/Slc4a7<tm1Krtz>
  http://metadb.riken.jp/0006072I129S5SvEvBrdC57BL6Slc4a7tm1KrtzSlc4a7tm1KrtzSlc4a7tm1Krtz
• abnormal auditory brainstem response waveform shape_Slc4a7<tm1Krtz>/Slc4a7<tm1Krtz>
  http://metadb.riken.jp/0011966I129S5SvEvBrdC57BL6Slc4a7tm1KrtzSlc4a7tm1KrtzSlc4a7tm1Krtz
• abnormal ocular fundus morphology_Slc4a7<tm1Krtz>/Slc4a7<tm1Krtz>
  http://metadb.riken.jp/0002864I129S5SvEvBrdC57BL6Slc4a7tm1KrtzSlc4a7tm1KrtzSlc4a7tm1Krtz
• short photoreceptor outer segment_Slc4a7<tm1Krtz>/Slc4a7<tm1Krtz>
  http://metadb.riken.jp/0008587I129S5SvEvBrdC57BL6Slc4a7tm1KrtzSlc4a7tm1KrtzSlc4a7tm1Krtz
• abnormal retinal vasculature morphology_Slc4a7<tm1Krtz>/Slc4a7<tm1Krtz>
  http://metadb.riken.jp/0002792I129S5SvEvBrdC57BL6Slc4a7tm1KrtzSlc4a7tm1KrtzSlc4a7tm1Krtz
• cochlear ganglion degeneration_Slc4a7<tm1Krtz>/Slc4a7<tm1Krtz>
  http://metadb.riken.jp/0002857I129S5SvEvBrdC57BL6Slc4a7tm1KrtzSlc4a7tm1KrtzSlc4a7tm1Krtz
• cochlear degeneration_Slc4a7<tm1Krtz>/Slc4a7<tm1Krtz>
  http://metadb.riken.jp/0000032I129S5SvEvBrdC57BL6Slc4a7tm1KrtzSlc4a7tm1KrtzSlc4a7tm1Krtz
• collapsed Reissner membrane_Slc4a7<tm1Krtz>/Slc4a7<tm1Krtz>
  http://metadb.riken.jp/0006024I129S5SvEvBrdC57BL6Slc4a7tm1KrtzSlc4a7tm1KrtzSlc4a7tm1Krtz
• thin retinal outer nuclear layer_Slc4a7<tm1Krtz>/Slc4a7<tm1Krtz>
  http://metadb.riken.jp/0008515I129S5SvEvBrdC57BL6Slc4a7tm1KrtzSlc4a7tm1KrtzSlc4a7tm1Krtz
• decreased retinal photoreceptor cell number_Slc4a7<tm1Krtz>/Slc4a7<tm1Krtz>
  http://metadb.riken.jp/0001327I129S5SvEvBrdC57BL6Slc4a7tm1KrtzSlc4a7tm1KrtzSlc4a7tm1Krtz
• abnormal spiral ligament morphology_Slc4a7<tm1Krtz>/Slc4a7<tm1Krtz>
  http://metadb.riken.jp/0004288I129S5SvEvBrdC57BL6Slc4a7tm1KrtzSlc4a7tm1KrtzSlc4a7tm1Krtz
• retinal photoreceptor degeneration_Slc4a7<tm1Krtz>/Slc4a7<tm1Krtz>
  http://metadb.riken.jp/0008450I129S5SvEvBrdC57BL6Slc4a7tm1KrtzSlc4a7tm1KrtzSlc4a7tm1Krtz
• cochlear outer hair cell degeneration_Slc4a7<tm1Krtz>/Slc4a7<tm1Krtz>
  http://metadb.riken.jp/0004404I129S5SvEvBrdC57BL6Slc4a7tm1KrtzSlc4a7tm1KrtzSlc4a7tm1Krtz
• blindness_Slc4a7<tm1Krtz>/Slc4a7<tm1Krtz>
  http://metadb.riken.jp/0002001I129S5SvEvBrdC57BL6Slc4a7tm1KrtzSlc4a7tm1KrtzSlc4a7tm1Krtz
• abnormal rod electrophysiology_Slc4a7<tm1Krtz>/Slc4a7<tm1Krtz>
  http://metadb.riken.jp/0004021I129S5SvEvBrdC57BL6Slc4a7tm1KrtzSlc4a7tm1KrtzSlc4a7tm1Krtz

トランスクリプトームデータ

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

• CD02574
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD02574