increased or absent threshold for auditory brainstem response_Otof<deaf5Jcs>/Otof<deaf5Jcs>

http://metadb.riken.jp/0011967STOCKOtofdeaf5JcsKjnOtofdeaf5JcsOtofdeaf5JcsOtofdeaf5Jcs

increased or absent threshold for auditory brainstem response_Otof<deaf5Jcs>/Otof<deaf5Jcs>

表現型アノテーション

MGI marker

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

• otoferlin
  http://metadb.riken.jp/db/mgi_rdf/MGI:1891247

遺伝子型

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

• Otof<deaf5Jcs>/Otof<deaf5Jcs>

アレルシンボル

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

• Otof<deaf5Jcs>

遺伝的背景

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

• STOCK Otof<deaf5Jcs>/Kjn

MP annotation

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

• increased or absent threshold for auditory brainstem response
  http://purl.obolibrary.org/obo/MP_0011967

文献

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

• Chantal. Longo-Guess, et.al., A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9., Hearing research, 2007, 234
  http://rdf.ncbi.nlm.nih.gov/pubmed/17967520