absent endocochlear potential_Slc26a4<tm1Egr>/Slc26a4<tm1Egr>

http://metadb.riken.jp/0004410I129S6SvEvTacSlc26a4tm1EgrSlc26a4tm1EgrSlc26a4tm1Egr

absent endocochlear potential_Slc26a4<tm1Egr>/Slc26a4<tm1Egr>

表現型アノテーション

MGI marker

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

• solute carrier family 26, member 4
  http://metadb.riken.jp/db/mgi_rdf/MGI:1346029

遺伝子型

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

• Slc26a4<tm1Egr>/Slc26a4<tm1Egr>

アレルシンボル

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

• Slc26a4<tm1Egr>

遺伝的背景

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

• involves: 129S6/SvEvTac

MP annotation

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

• absent endocochlear potential
  http://purl.obolibrary.org/obo/MP_0004410

文献

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

• Ines E. Royaux, et.al., Localization and functional studies of pendrin in the mouse inner ear provide insight about the etiology of deafness in pendred syndrome., Journal of the Association for Research in Otolaryngology : JARO, 2003, 4
  http://rdf.ncbi.nlm.nih.gov/pubmed/14690057
• Philine. Wangemann, et.al., Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model., BMC medicine, 2004, 2
  http://rdf.ncbi.nlm.nih.gov/pubmed/15320950