increased or absent threshold for auditory brainstem response_Dfna5<tm1Ant>/Dfna5<tm1Ant>,Dfnb59<tm1Ugds>/Dfnb59<tm1Ugds>

http://metadb.riken.jp/0011967I129P2OlaHsd129S2SvPasBALBcC57BL6CBACaDfna5tm1AntDfna5tm1AntDfnb59tm1UgdsDfnb59tm1UgdsDfnb59tm1UgdsDfna5tm1Ant

increased or absent threshold for auditory brainstem response_Dfna5<tm1Ant>/Dfna5<tm1Ant>,Dfnb59<tm1Ugds>/Dfnb59<tm1Ugds>

表現型アノテーション

MGI marker

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

• deafness, autosomal recessive 59 (human)
  http://metadb.riken.jp/db/mgi_rdf/MGI:2685847
• deafness, autosomal dominant 5 (human)
  http://metadb.riken.jp/db/mgi_rdf/MGI:1889850

遺伝子型

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

• Dfna5<tm1Ant>/Dfna5<tm1Ant>,Dfnb59<tm1Ugds>/Dfnb59<tm1Ugds>

アレルシンボル

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

• Dfnb59<tm1Ugds>|Dfna5<tm1Ant>

遺伝的背景

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

• involves: 129P2/OlaHsd * 129S2/SvPas * BALB/c * C57BL/6 * CBA/Ca

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

• Sedigheh. Delmaghani, et.al., Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy., Nature genetics, 2006, 38
  http://rdf.ncbi.nlm.nih.gov/pubmed/16804542