cochlear outer hair cell degeneration_S1pr2<tm1Ajml>/S1pr2<tm1Ajml>

http://metadb.riken.jp/0004404EI129S5SvEvBrdorI129S5SvEvBrdC57BL6S1pr2tm1AjmlS1pr2tm1AjmlS1pr2tm1Ajml

cochlear outer hair cell degeneration_S1pr2<tm1Ajml>/S1pr2<tm1Ajml>

表現型アノテーション

MGI marker

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

• sphingosine-1-phosphate receptor 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:99569

遺伝子型

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

• S1pr2<tm1Ajml>/S1pr2<tm1Ajml>

アレルシンボル

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

• S1pr2<tm1Ajml>

遺伝的背景

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

• either: (involves: 129S5/SvEvBrd) or (involves: 129S5/SvEvBrd * C57BL/6)

MP annotation

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

• cochlear outer hair cell degeneration
  http://purl.obolibrary.org/obo/MP_0004404

文献

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

• A John. MacLennan, et.al., The S1P2 sphingosine 1-phosphate receptor is essential for auditory and vestibular function., Hearing research, 2006, 220
  http://rdf.ncbi.nlm.nih.gov/pubmed/16945494
• Regie Lyn P. Santos-Cortez, et.al., Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2., American journal of human genetics, 2016, 98
  http://rdf.ncbi.nlm.nih.gov/pubmed/26805784