Elisa. Caberlotto, et.al., Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia., Proceedings of the National Academy of Sciences of the United States of America, 2011, 108

http://rdf.ncbi.nlm.nih.gov/pubmed/21436032

Elisa. Caberlotto, et.al., Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia., Proceedings of the National Academy of Sciences of the United States of America, 2011, 108

pubmed

allele

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

• Ush1g<tm1.1Ugds>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4361359
• Ush1g<tm1.2Ugds>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4950014
• Myo15<tm1.1(cre)Ugds>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4361284

class

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

• Ush1g<tm1.1Ugds>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4361359
• Ush1g<tm1.2Ugds>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4950014
• Myo15<tm1.1(cre)Ugds>
  http://metadb.riken.jp/db/mgi_rdf/MGI:4361284

表現型アノテーション

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

• abnormal vestibular hair cell stereociliary bundle morphology_Ush1g<tm1.2Ugds>/Ush1g<tm1.2Ugds>
  http://metadb.riken.jp/0004515I129S1SvImJBALBcC57BL6C57BL6JUsh1gtm12UgdsUsh1gtm12UgdsUsh1gtm12Ugds
• abnormal hair cell mechanoelectric transduction_Cdh23<tm1.2Ugds>/Cdh23<tm1.2Ugds>
  http://metadb.riken.jp/0004431I129S1SvImJCdh23tm12UgdsCdh23tm12UgdsCdh23tm12Ugds
• short outer hair cell stereocilia_Myo15<tm1.1(cre)Ugds>/Myo15<+>,Ush1g<tm1.1Ugds>/Ush1g<tm1.1Ugds>
  http://metadb.riken.jp/0004531I129S1SvImJC57BL6JMyo15tm11creUgdsMyo15Ush1gtm11UgdsUsh1gtm11UgdsMyo15Myo15tm11creUgdsUsh1gtm11Ugds
• absent cochlear microphonics_Cdh23<tm1.1Ugds>/Cdh23<tm1.1Ugds>,Myo15<tm1.1(cre)Ugds>/Myo15<+>
  http://metadb.riken.jp/0004413I129S1SvImJC57BL6JCdh23tm11UgdsCdh23tm11UgdsMyo15tm11creUgdsMyo15Myo15Cdh23tm11UgdsMyo15tm11creUgds
• abnormal hearing electrophysiology_Cdh23<tm1.1Ugds>/Cdh23<tm1.1Ugds>,Myo15<tm1.1(cre)Ugds>/Myo15<+>
  http://metadb.riken.jp/0006335I129S1SvImJC57BL6JCdh23tm11UgdsCdh23tm11UgdsMyo15tm11creUgdsMyo15Myo15Cdh23tm11UgdsMyo15tm11creUgds
• increased or absent threshold for auditory brainstem response_Ush1g<tm1.2Ugds>/Ush1g<tm1.2Ugds>
  http://metadb.riken.jp/0011967I129S1SvImJBALBcC57BL6C57BL6JUsh1gtm12UgdsUsh1gtm12UgdsUsh1gtm12Ugds
• short outer hair cell stereocilia_Cdh23<tm1.1Ugds>/Cdh23<tm1.1Ugds>,Myo15<tm1.1(cre)Ugds>/Myo15<+>
  http://metadb.riken.jp/0004531I129S1SvImJC57BL6JCdh23tm11UgdsCdh23tm11UgdsMyo15tm11creUgdsMyo15Myo15Cdh23tm11UgdsMyo15tm11creUgds
• absent distortion product otoacoustic emissions_Cdh23<tm1.1Ugds>/Cdh23<tm1.1Ugds>,Myo15<tm1.1(cre)Ugds>/Myo15<+>
  http://metadb.riken.jp/0004737I129S1SvImJC57BL6JCdh23tm11UgdsCdh23tm11UgdsMyo15tm11creUgdsMyo15Myo15Cdh23tm11UgdsMyo15tm11creUgds
• decreased outer hair cell stereocilia number_Cdh23<tm1.1Ugds>/Cdh23<tm1.1Ugds>,Myo15<tm1.1(cre)Ugds>/Myo15<+>
  http://metadb.riken.jp/0004529I129S1SvImJC57BL6JCdh23tm11UgdsCdh23tm11UgdsMyo15tm11creUgdsMyo15Myo15Cdh23tm11UgdsMyo15tm11creUgds
• abnormal hair cell physiology_Myo15<tm1.1(cre)Ugds>/Myo15<+>,Ush1g<tm1.1Ugds>/Ush1g<tm1.1Ugds>
  http://metadb.riken.jp/0003879I129S1SvImJC57BL6JMyo15tm11creUgdsMyo15Ush1gtm11UgdsUsh1gtm11UgdsMyo15Myo15tm11creUgdsUsh1gtm11Ugds
• absent cochlear microphonics_Myo15<tm1.1(cre)Ugds>/Myo15<+>,Ush1g<tm1.1Ugds>/Ush1g<tm1.1Ugds>
  http://metadb.riken.jp/0004413I129S1SvImJC57BL6JMyo15tm11creUgdsMyo15Ush1gtm11UgdsUsh1gtm11UgdsMyo15Myo15tm11creUgdsUsh1gtm11Ugds
• abnormal outer hair cell stereociliary bundle morphology_Myo15<tm1.1(cre)Ugds>/Myo15<+>,Ush1g<tm1.1Ugds>/Ush1g<tm1.1Ugds>
  http://metadb.riken.jp/0004527I129S1SvImJC57BL6JMyo15tm11creUgdsMyo15Ush1gtm11UgdsUsh1gtm11UgdsMyo15Myo15tm11creUgdsUsh1gtm11Ugds
• deafness_Myo15<tm1.1(cre)Ugds>/Myo15<+>,Ush1g<tm1.1Ugds>/Ush1g<tm1.1Ugds>
  http://metadb.riken.jp/0001967I129S1SvImJC57BL6JMyo15tm11creUgdsMyo15Ush1gtm11UgdsUsh1gtm11UgdsMyo15Myo15tm11creUgdsUsh1gtm11Ugds
• absent cochlear microphonics_Ush1g<tm1.2Ugds>/Ush1g<tm1.2Ugds>
  http://metadb.riken.jp/0004413I129S1SvImJBALBcC57BL6C57BL6JUsh1gtm12UgdsUsh1gtm12UgdsUsh1gtm12Ugds
• abnormal cochlear hair bundle tip links morphology_Myo15<tm1.1(cre)Ugds>/Myo15<+>,Ush1g<tm1.1Ugds>/Ush1g<tm1.1Ugds>
  http://metadb.riken.jp/0004578I129S1SvImJC57BL6JMyo15tm11creUgdsMyo15Ush1gtm11UgdsUsh1gtm11UgdsMyo15Myo15tm11creUgdsUsh1gtm11Ugds
• decreased inner hair cell stereocilia number_Myo15<tm1.1(cre)Ugds>/Myo15<+>,Ush1g<tm1.1Ugds>/Ush1g<tm1.1Ugds>
  http://metadb.riken.jp/0004534I129S1SvImJC57BL6JMyo15tm11creUgdsMyo15Ush1gtm11UgdsUsh1gtm11UgdsMyo15Myo15tm11creUgdsUsh1gtm11Ugds
• increased or absent threshold for auditory brainstem response_Cdh23<tm1.1Ugds>/Cdh23<tm1.1Ugds>,Myo15<tm1.1(cre)Ugds>/Myo15<+>
  http://metadb.riken.jp/0011967I129S1SvImJC57BL6JCdh23tm11UgdsCdh23tm11UgdsMyo15tm11creUgdsMyo15Myo15Cdh23tm11UgdsMyo15tm11creUgds
• abnormal hair cell mechanoelectric transduction_Myo15<tm1.1(cre)Ugds>/Myo15<+>,Ush1g<tm1.1Ugds>/Ush1g<tm1.1Ugds>
  http://metadb.riken.jp/0004431I129S1SvImJC57BL6JMyo15tm11creUgdsMyo15Ush1gtm11UgdsUsh1gtm11UgdsMyo15Myo15tm11creUgdsUsh1gtm11Ugds
• increased or absent threshold for auditory brainstem response_Myo15<tm1.1(cre)Ugds>/Myo15<+>,Ush1g<tm1.1Ugds>/Ush1g<tm1.1Ugds>
  http://metadb.riken.jp/0011967I129S1SvImJC57BL6JMyo15tm11creUgdsMyo15Ush1gtm11UgdsUsh1gtm11UgdsMyo15Myo15tm11creUgdsUsh1gtm11Ugds
• abnormal hair cell mechanoelectric transduction_Ush1g<tm1.2Ugds>/Ush1g<tm1.2Ugds>
  http://metadb.riken.jp/0004431I129S1SvImJBALBcC57BL6C57BL6JUsh1gtm12UgdsUsh1gtm12UgdsUsh1gtm12Ugds
• decreased inner hair cell stereocilia number_Cdh23<tm1.1Ugds>/Cdh23<tm1.1Ugds>,Myo15<tm1.1(cre)Ugds>/Myo15<+>
  http://metadb.riken.jp/0004534I129S1SvImJC57BL6JCdh23tm11UgdsCdh23tm11UgdsMyo15tm11creUgdsMyo15Myo15Cdh23tm11UgdsMyo15tm11creUgds
• impaired hearing_Cdh23<tm1.1Ugds>/Cdh23<tm1.1Ugds>,Myo15<tm1.1(cre)Ugds>/Myo15<+>
  http://metadb.riken.jp/0006325I129S1SvImJC57BL6JCdh23tm11UgdsCdh23tm11UgdsMyo15tm11creUgdsMyo15Myo15Cdh23tm11UgdsMyo15tm11creUgds
• absent distortion product otoacoustic emissions_Myo15<tm1.1(cre)Ugds>/Myo15<+>,Ush1g<tm1.1Ugds>/Ush1g<tm1.1Ugds>
  http://metadb.riken.jp/0004737I129S1SvImJC57BL6JMyo15tm11creUgdsMyo15Ush1gtm11UgdsUsh1gtm11UgdsMyo15Myo15tm11creUgdsUsh1gtm11Ugds
• abnormal inner hair cell stereociliary bundle morphology_Ush1g<tm1.2Ugds>/Ush1g<tm1.2Ugds>
  http://metadb.riken.jp/0004532I129S1SvImJBALBcC57BL6C57BL6JUsh1gtm12UgdsUsh1gtm12UgdsUsh1gtm12Ugds
• circling_Myo15<tm1.1(cre)Ugds>/Myo15<+>,Ush1g<tm1.1Ugds>/Ush1g<tm1.1Ugds>
  http://metadb.riken.jp/0001394I129S1SvImJC57BL6JMyo15tm11creUgdsMyo15Ush1gtm11UgdsUsh1gtm11UgdsMyo15Myo15tm11creUgdsUsh1gtm11Ugds
• abnormal cochlear hair bundle tip links morphology_Cdh23<tm1.1Ugds>/Cdh23<tm1.1Ugds>,Myo15<tm1.1(cre)Ugds>/Myo15<+>
  http://metadb.riken.jp/0004578I129S1SvImJC57BL6JCdh23tm11UgdsCdh23tm11UgdsMyo15tm11creUgdsMyo15Myo15Cdh23tm11UgdsMyo15tm11creUgds
• short inner hair cell stereocilia_Myo15<tm1.1(cre)Ugds>/Myo15<+>,Ush1g<tm1.1Ugds>/Ush1g<tm1.1Ugds>
  http://metadb.riken.jp/0004536I129S1SvImJC57BL6JMyo15tm11creUgdsMyo15Ush1gtm11UgdsUsh1gtm11UgdsMyo15Myo15tm11creUgdsUsh1gtm11Ugds
• abnormal hearing electrophysiology_Myo15<tm1.1(cre)Ugds>/Myo15<+>,Ush1g<tm1.1Ugds>/Ush1g<tm1.1Ugds>
  http://metadb.riken.jp/0006335I129S1SvImJC57BL6JMyo15tm11creUgdsMyo15Ush1gtm11UgdsUsh1gtm11UgdsMyo15Myo15tm11creUgdsUsh1gtm11Ugds
• abnormal inner hair cell stereociliary bundle morphology_Cdh23<tm1.1Ugds>/Cdh23<tm1.1Ugds>,Myo15<tm1.1(cre)Ugds>/Myo15<+>
  http://metadb.riken.jp/0004532I129S1SvImJC57BL6JCdh23tm11UgdsCdh23tm11UgdsMyo15tm11creUgdsMyo15Myo15Cdh23tm11UgdsMyo15tm11creUgds
• abnormal outer hair cell stereociliary bundle morphology_Ush1g<tm1.2Ugds>/Ush1g<tm1.2Ugds>
  http://metadb.riken.jp/0004527I129S1SvImJBALBcC57BL6C57BL6JUsh1gtm12UgdsUsh1gtm12UgdsUsh1gtm12Ugds
• absent distortion product otoacoustic emissions_Ush1g<tm1.2Ugds>/Ush1g<tm1.2Ugds>
  http://metadb.riken.jp/0004737I129S1SvImJBALBcC57BL6C57BL6JUsh1gtm12UgdsUsh1gtm12UgdsUsh1gtm12Ugds
• abnormal outer hair cell kinocilium morphology_Ush1g<tm1.2Ugds>/Ush1g<tm1.2Ugds>
  http://metadb.riken.jp/0011062I129S1SvImJBALBcC57BL6C57BL6JUsh1gtm12UgdsUsh1gtm12UgdsUsh1gtm12Ugds
• decreased outer hair cell stereocilia number_Myo15<tm1.1(cre)Ugds>/Myo15<+>,Ush1g<tm1.1Ugds>/Ush1g<tm1.1Ugds>
  http://metadb.riken.jp/0004529I129S1SvImJC57BL6JMyo15tm11creUgdsMyo15Ush1gtm11UgdsUsh1gtm11UgdsMyo15Myo15tm11creUgdsUsh1gtm11Ugds
• abnormal inner hair cell stereociliary bundle morphology_Myo15<tm1.1(cre)Ugds>/Myo15<+>,Ush1g<tm1.1Ugds>/Ush1g<tm1.1Ugds>
  http://metadb.riken.jp/0004532I129S1SvImJC57BL6JMyo15tm11creUgdsMyo15Ush1gtm11UgdsUsh1gtm11UgdsMyo15Myo15tm11creUgdsUsh1gtm11Ugds
• abnormal outer hair cell stereociliary bundle morphology_Cdh23<tm1.1Ugds>/Cdh23<tm1.1Ugds>,Myo15<tm1.1(cre)Ugds>/Myo15<+>
  http://metadb.riken.jp/0004527I129S1SvImJC57BL6JCdh23tm11UgdsCdh23tm11UgdsMyo15tm11creUgdsMyo15Myo15Cdh23tm11UgdsMyo15tm11creUgds
• abnormal vestibular system physiology_Myo15<tm1.1(cre)Ugds>/Myo15<+>,Ush1g<tm1.1Ugds>/Ush1g<tm1.1Ugds>
  http://metadb.riken.jp/0004742I129S1SvImJC57BL6JMyo15tm11creUgdsMyo15Ush1gtm11UgdsUsh1gtm11UgdsMyo15Myo15tm11creUgdsUsh1gtm11Ugds
• short inner hair cell stereocilia_Cdh23<tm1.1Ugds>/Cdh23<tm1.1Ugds>,Myo15<tm1.1(cre)Ugds>/Myo15<+>
  http://metadb.riken.jp/0004536I129S1SvImJC57BL6JCdh23tm11UgdsCdh23tm11UgdsMyo15tm11creUgdsMyo15Myo15Cdh23tm11UgdsMyo15tm11creUgds