Eva L. Morozko, et.al., ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells., Human molecular genetics, 2015, 24

http://rdf.ncbi.nlm.nih.gov/pubmed/25217574

Eva L. Morozko, et.al., ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells., Human molecular genetics, 2015, 24

pubmed

表現型アノテーション

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

• increased or absent threshold for auditory brainstem response_Ildr1<Gt(D178D03)Wrst>/Ildr1<Gt(D178D03)Wrst>
  http://metadb.riken.jp/0011967I129S2SvPasSwissWebsterIldr1GtD178D03WrstIldr1GtD178D03WrstIldr1GtD178D03Wrst
• abnormal endocochlear potential_Ildr1<tm1(KOMP)Wtsi>/Ildr1<tm1(KOMP)Wtsi>
  http://metadb.riken.jp/0002630IC57BL6NIldr1tm1KOMPWtsiIldr1tm1KOMPWtsiIldr1tm1KOMPWtsi
• increased or absent threshold for auditory brainstem response_Ildr1<tm1(KOMP)Wtsi>/Ildr1<tm1(KOMP)Wtsi>
  http://metadb.riken.jp/0011967IC57BL6NIldr1tm1KOMPWtsiIldr1tm1KOMPWtsiIldr1tm1KOMPWtsi
• abnormal endocochlear potential_Ildr1<Gt(D178D03)Wrst>/Ildr1<Gt(D178D03)Wrst>
  http://metadb.riken.jp/0002630I129S2SvPasSwissWebsterIldr1GtD178D03WrstIldr1GtD178D03WrstIldr1GtD178D03Wrst
• absent distortion product otoacoustic emissions_Ildr1<Gt(D178D03)Wrst>/Ildr1<Gt(D178D03)Wrst>
  http://metadb.riken.jp/0004737I129S2SvPasSwissWebsterIldr1GtD178D03WrstIldr1GtD178D03WrstIldr1GtD178D03Wrst
• abnormal outer hair cell stereociliary bundle morphology_Ildr1<Gt(D178D03)Wrst>/Ildr1<Gt(D178D03)Wrst>
  http://metadb.riken.jp/0004527I129S2SvPasSwissWebsterIldr1GtD178D03WrstIldr1GtD178D03WrstIldr1GtD178D03Wrst
• abnormal organ of Corti morphology_Ildr1<Gt(D178D03)Wrst>/Ildr1<Gt(D178D03)Wrst>
  http://metadb.riken.jp/0000042I129S2SvPasSwissWebsterIldr1GtD178D03WrstIldr1GtD178D03WrstIldr1GtD178D03Wrst
• abnormal inner ear morphology_Ildr1<Gt(D178D03)Wrst>/Ildr1<Gt(D178D03)Wrst>
  http://metadb.riken.jp/0000026I129S2SvPasSwissWebsterIldr1GtD178D03WrstIldr1GtD178D03WrstIldr1GtD178D03Wrst
• deafness_Ildr1<tm1(KOMP)Wtsi>/Ildr1<tm1(KOMP)Wtsi>
  http://metadb.riken.jp/0001967IC57BL6NIldr1tm1KOMPWtsiIldr1tm1KOMPWtsiIldr1tm1KOMPWtsi
• cochlear outer hair cell degeneration_Ildr1<tm1(KOMP)Wtsi>/Ildr1<tm1(KOMP)Wtsi>
  http://metadb.riken.jp/0004404IC57BL6NIldr1tm1KOMPWtsiIldr1tm1KOMPWtsiIldr1tm1KOMPWtsi
• deafness_Ildr1<Gt(D178D03)Wrst>/Ildr1<Gt(D178D03)Wrst>
  http://metadb.riken.jp/0001967I129S2SvPasSwissWebsterIldr1GtD178D03WrstIldr1GtD178D03WrstIldr1GtD178D03Wrst
• abnormal cochlear hair cell morphology_Ildr1<Gt(D178D03)Wrst>/Ildr1<Gt(D178D03)Wrst>
  http://metadb.riken.jp/0002622I129S2SvPasSwissWebsterIldr1GtD178D03WrstIldr1GtD178D03WrstIldr1GtD178D03Wrst
• cochlear outer hair cell degeneration_Ildr1<Gt(D178D03)Wrst>/Ildr1<Gt(D178D03)Wrst>
  http://metadb.riken.jp/0004404I129S2SvPasSwissWebsterIldr1GtD178D03WrstIldr1GtD178D03WrstIldr1GtD178D03Wrst
• cochlear inner hair cell degeneration_Ildr1<Gt(D178D03)Wrst>/Ildr1<Gt(D178D03)Wrst>
  http://metadb.riken.jp/0004398I129S2SvPasSwissWebsterIldr1GtD178D03WrstIldr1GtD178D03WrstIldr1GtD178D03Wrst