abnormal inner hair cell synaptic ribbon morphology_Otof<tm1Ugds>/Otof<tm1Ugds>

http://metadb.riken.jp/0004562I129S2SvPasC57BL6Otoftm1UgdsOtoftm1UgdsOtoftm1Ugds

abnormal inner hair cell synaptic ribbon morphology_Otof<tm1Ugds>/Otof<tm1Ugds>

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<tm1Ugds>/Otof<tm1Ugds>

アレルシンボル

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

• Otof<tm1Ugds>

遺伝的背景

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

• involves: 129S2/SvPas * C57BL/6

MP annotation

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

• abnormal inner hair cell synaptic ribbon morphology
  http://purl.obolibrary.org/obo/MP_0004562

文献

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

• Isabelle. Roux, et.al., Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse., Cell, 2006, 127
  http://rdf.ncbi.nlm.nih.gov/pubmed/17055430