abnormal auditory brainstem response waveform shape_Dfnb59<tm1Ugds>/Dfnb59<tm1Ugds>

http://metadb.riken.jp/0011966I129S2SvPasBALBcC57BL6Dfnb59tm1UgdsDfnb59tm1UgdsDfnb59tm1Ugds

abnormal auditory brainstem response waveform shape_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

遺伝子型

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

• Dfnb59<tm1Ugds>/Dfnb59<tm1Ugds>

アレルシンボル

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

• Dfnb59<tm1Ugds>

遺伝的背景

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

• involves: 129S2/SvPas * BALB/c * C57BL/6

MP annotation

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

• abnormal auditory brainstem response waveform shape
  http://purl.obolibrary.org/obo/MP_0011966

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