cochlear inner hair cell degeneration_Gjb6<tm1Kwi>/Gjb6<tm1Kwi>

http://metadb.riken.jp/0004398I129P2OlaHsdC57BL6Gjb6tm1KwiGjb6tm1KwiGjb6tm1Kwi

cochlear inner hair cell degeneration_Gjb6<tm1Kwi>/Gjb6<tm1Kwi>

表現型アノテーション

MGI marker

http://metadb.riken.jp/db/mgi_rdf/variant_of

• gap junction protein, beta 6
  http://metadb.riken.jp/db/mgi_rdf/MGI:107588

遺伝子型

http://metadb.riken.jp/db/mgi_rdf/allele_composition

• Gjb6<tm1Kwi>/Gjb6<tm1Kwi>

アレルシンボル

http://metadb.riken.jp/db/mgi_rdf/allele_symbol

• Gjb6<tm1Kwi>

遺伝的背景

http://metadb.riken.jp/db/mgi_rdf/genetic_background

• involves: 129P2/OlaHsd * C57BL/6

MP annotation

http://metadb.riken.jp/db/bioresource_schema/brs_indicatesPhenotype

• cochlear inner hair cell degeneration
  http://purl.obolibrary.org/obo/MP_0004398

文献

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

• Barbara. Teubner, et.al., Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential., Human molecular genetics, 2003, 12
  http://rdf.ncbi.nlm.nih.gov/pubmed/12490528
• Shoeb. Ahmad, et.al., Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness., Proceedings of the National Academy of Sciences of the United States of America, 2007, 104
  http://rdf.ncbi.nlm.nih.gov/pubmed/17227867