L A. Everett, et.al., Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome., Human molecular genetics, 2001, 10

http://rdf.ncbi.nlm.nih.gov/pubmed/11152663

L A. Everett, et.al., Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome., Human molecular genetics, 2001, 10

pubmed

allele

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

• Slc26a4<tm1Egr>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2385787

class

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

• Slc26a4<tm1Egr>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2385787

表現型アノテーション

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

• abnormal vestibular system physiology_Slc26a4<tm1Egr>/Slc26a4<tm1Egr>
  http://metadb.riken.jp/0004742EI129S6SvEvTacorI129S6SvEvTacBlackSwissSlc26a4tm1EgrSlc26a4tm1EgrSlc26a4tm1Egr
• head bobbing_Slc26a4<tm1Egr>/Slc26a4<tm1Egr>
  http://metadb.riken.jp/0001410EI129S6SvEvTacorI129S6SvEvTacBlackSwissSlc26a4tm1EgrSlc26a4tm1EgrSlc26a4tm1Egr
• abnormal inner ear morphology_Slc26a4<tm1Egr>/Slc26a4<tm1Egr>
  http://metadb.riken.jp/0000026EI129S6SvEvTacorI129S6SvEvTacBlackSwissSlc26a4tm1EgrSlc26a4tm1EgrSlc26a4tm1Egr
• impaired coordination_Slc26a4<tm1Egr>/Slc26a4<tm1Egr>
  http://metadb.riken.jp/0001405EI129S6SvEvTacorI129S6SvEvTacBlackSwissSlc26a4tm1EgrSlc26a4tm1EgrSlc26a4tm1Egr
• deafness_Slc26a4<tm1Egr>/Slc26a4<tm1Egr>
  http://metadb.riken.jp/0001967EI129S6SvEvTacorI129S6SvEvTacBlackSwissSlc26a4tm1EgrSlc26a4tm1EgrSlc26a4tm1Egr
• utricular macular degeneration_Slc26a4<tm1Egr>/Slc26a4<tm1Egr>
  http://metadb.riken.jp/0004334EI129S6SvEvTacorI129S6SvEvTacBlackSwissSlc26a4tm1EgrSlc26a4tm1EgrSlc26a4tm1Egr
• nonsyndromic hearing loss_Slc26a4<tm1Egr>/Slc26a4<tm1Egr>
  http://metadb.riken.jp/0004749I129S6SvEvTacSlc26a4tm1EgrSlc26a4tm1EgrSlc26a4tm1Egr
• abnormal gait_Slc26a4<tm1Egr>/Slc26a4<tm1Egr>
  http://metadb.riken.jp/0001406EI129S6SvEvTacorI129S6SvEvTacBlackSwissSlc26a4tm1EgrSlc26a4tm1EgrSlc26a4tm1Egr
• distended Reissner membrane_Slc26a4<tm1Egr>/Slc26a4<tm1Egr>
  http://metadb.riken.jp/0006025EI129S6SvEvTacorI129S6SvEvTacBlackSwissSlc26a4tm1EgrSlc26a4tm1EgrSlc26a4tm1Egr
• increased or absent threshold for auditory brainstem response_Slc26a4<tm1Egr>/Slc26a4<tm1Egr>
  http://metadb.riken.jp/0011967EI129S6SvEvTacorI129S6SvEvTacBlackSwissSlc26a4tm1EgrSlc26a4tm1EgrSlc26a4tm1Egr
• abnormal otolithic membrane morphology_Slc26a4<tm1Egr>/Slc26a4<tm1Egr>
  http://metadb.riken.jp/0002895EI129S6SvEvTacorI129S6SvEvTacBlackSwissSlc26a4tm1EgrSlc26a4tm1EgrSlc26a4tm1Egr
• cochlear inner hair cell degeneration_Slc26a4<tm1Egr>/Slc26a4<tm1Egr>
  http://metadb.riken.jp/0004398EI129S6SvEvTacorI129S6SvEvTacBlackSwissSlc26a4tm1EgrSlc26a4tm1EgrSlc26a4tm1Egr
• vestibular saccular macula degeneration_Slc26a4<tm1Egr>/Slc26a4<tm1Egr>
  http://metadb.riken.jp/0004331EI129S6SvEvTacorI129S6SvEvTacBlackSwissSlc26a4tm1EgrSlc26a4tm1EgrSlc26a4tm1Egr
• absent pinna reflex_Slc26a4<tm1Egr>/Slc26a4<tm1Egr>
  http://metadb.riken.jp/0006358EI129S6SvEvTacorI129S6SvEvTacBlackSwissSlc26a4tm1EgrSlc26a4tm1EgrSlc26a4tm1Egr
• dilated endolymphatic duct_Slc26a4<tm1Egr>/Slc26a4<tm1Egr>
  http://metadb.riken.jp/0006012EI129S6SvEvTacorI129S6SvEvTacBlackSwissSlc26a4tm1EgrSlc26a4tm1EgrSlc26a4tm1Egr
• enlarged vestibular saccule_Slc26a4<tm1Egr>/Slc26a4<tm1Egr>
  http://metadb.riken.jp/0004316EI129S6SvEvTacorI129S6SvEvTacBlackSwissSlc26a4tm1EgrSlc26a4tm1EgrSlc26a4tm1Egr
• dilated cochlea_Slc26a4<tm1Egr>/Slc26a4<tm1Egr>
  http://metadb.riken.jp/0004493EI129S6SvEvTacorI129S6SvEvTacBlackSwissSlc26a4tm1EgrSlc26a4tm1EgrSlc26a4tm1Egr
• enlarged otoliths_Slc26a4<tm1Egr>/Slc26a4<tm1Egr>
  http://metadb.riken.jp/0003143EI129S6SvEvTacorI129S6SvEvTacBlackSwissSlc26a4tm1EgrSlc26a4tm1EgrSlc26a4tm1Egr
• absent otoliths_Slc26a4<tm1Egr>/Slc26a4<tm1Egr>
  http://metadb.riken.jp/0002978EI129S6SvEvTacorI129S6SvEvTacBlackSwissSlc26a4tm1EgrSlc26a4tm1EgrSlc26a4tm1Egr
• sensorineural hearing loss_Slc26a4<tm1Egr>/Slc26a4<tm1Egr>
  http://metadb.riken.jp/0004740EI129S6SvEvTacorI129S6SvEvTacBlackSwissSlc26a4tm1EgrSlc26a4tm1EgrSlc26a4tm1Egr
• cochlear outer hair cell degeneration_Slc26a4<tm1Egr>/Slc26a4<tm1Egr>
  http://metadb.riken.jp/0004404EI129S6SvEvTacorI129S6SvEvTacBlackSwissSlc26a4tm1EgrSlc26a4tm1EgrSlc26a4tm1Egr
• fused inner hair cell stereocilia_Slc26a4<tm1Egr>/Slc26a4<tm1Egr>
  http://metadb.riken.jp/0004533EI129S6SvEvTacorI129S6SvEvTacBlackSwissSlc26a4tm1EgrSlc26a4tm1EgrSlc26a4tm1Egr
• dilated scala media_Slc26a4<tm1Egr>/Slc26a4<tm1Egr>
  http://metadb.riken.jp/0008309EI129S6SvEvTacorI129S6SvEvTacBlackSwissSlc26a4tm1EgrSlc26a4tm1EgrSlc26a4tm1Egr
• head tilt_Slc26a4<tm1Egr>/Slc26a4<tm1Egr>
  http://metadb.riken.jp/0005191EI129S6SvEvTacorI129S6SvEvTacBlackSwissSlc26a4tm1EgrSlc26a4tm1EgrSlc26a4tm1Egr
• dilated endolymphatic sac_Slc26a4<tm1Egr>/Slc26a4<tm1Egr>
  http://metadb.riken.jp/0006014EI129S6SvEvTacorI129S6SvEvTacBlackSwissSlc26a4tm1EgrSlc26a4tm1EgrSlc26a4tm1Egr
• abnormal semicircular canal morphology_Slc26a4<tm1Egr>/Slc26a4<tm1Egr>
  http://metadb.riken.jp/0002428EI129S6SvEvTacorI129S6SvEvTacBlackSwissSlc26a4tm1EgrSlc26a4tm1EgrSlc26a4tm1Egr
• circling_Slc26a4<tm1Egr>/Slc26a4<tm1Egr>
  http://metadb.riken.jp/0001394EI129S6SvEvTacorI129S6SvEvTacBlackSwissSlc26a4tm1EgrSlc26a4tm1EgrSlc26a4tm1Egr

トランスクリプトームデータ

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

• CD17358
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD17358