sensorineural hearing loss_Slc19a2<tm1Ejn>/Slc19a2<tm1Ejn>

http://metadb.riken.jp/0004740I129S4SvJae129S6SvEvTacSlc19a2tm1EjnSlc19a2tm1EjnSlc19a2tm1Ejn

sensorineural hearing loss_Slc19a2<tm1Ejn>/Slc19a2<tm1Ejn>

表現型アノテーション

MGI marker

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

• solute carrier family 19 (thiamine transporter), member 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:1928761

遺伝子型

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

• Slc19a2<tm1Ejn>/Slc19a2<tm1Ejn>

アレルシンボル

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

• Slc19a2<tm1Ejn>

遺伝的背景

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

• involves: 129S4/SvJae * 129S6/SvEvTac

MP annotation

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

• sensorineural hearing loss
  http://purl.obolibrary.org/obo/MP_0004740

文献

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

• M C. Liberman, et.al., Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype., Journal of the Association for Research in Otolaryngology : JARO, 2006, 7
  http://rdf.ncbi.nlm.nih.gov/pubmed/16642288