cochlear hair cell degeneration_Slc26a4<tm1.1Dontu>/Slc26a4<tm1.1Dontu>

http://metadb.riken.jp/0004362I129S1Sv129X1SvJSlc26a4tm11DontuSlc26a4tm11DontuSlc26a4tm11Dontu

cochlear hair cell degeneration_Slc26a4<tm1.1Dontu>/Slc26a4<tm1.1Dontu>

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<tm1.1Dontu>/Slc26a4<tm1.1Dontu>

アレルシンボル

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

• Slc26a4<tm1.1Dontu>

遺伝的背景

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

• involves: 129S1/Sv * 129X1/SvJ

MP annotation

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

• cochlear hair cell degeneration
  http://purl.obolibrary.org/obo/MP_0004362

文献

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

• Ying-Chang. Lu, et.al., Differences in the pathogenicity of the p.H723R mutation of the common deafness-associated SLC26A4 gene in humans and mice., PloS one, 2014, 8
  http://rdf.ncbi.nlm.nih.gov/pubmed/23755160