abnormal cone electrophysiology_Grn<tm1.1Far>/Grn<tm1.1Far>

http://metadb.riken.jp/0004022I129S4SvJaeC57BL6JFVBNGrntm11FarGrntm11FarGrntm11Far

abnormal cone electrophysiology_Grn<tm1.1Far>/Grn<tm1.1Far>

表現型アノテーション

MGI marker

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

• granulin
  http://metadb.riken.jp/db/mgi_rdf/MGI:95832

遺伝子型

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

• Grn<tm1.1Far>/Grn<tm1.1Far>

アレルシンボル

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

• Grn<tm1.1Far>

遺伝的背景

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

• involves: 129S4/SvJae * C57BL/6J * FVB/N

MP annotation

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

• abnormal cone electrophysiology
  http://purl.obolibrary.org/obo/MP_0004022

文献

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

• Michael E. Ward, et.al., Early retinal neurodegeneration and impaired Ran-mediated nuclear import of TDP-43 in progranulin-deficient FTLD., The Journal of experimental medicine, 2014, 211
  http://rdf.ncbi.nlm.nih.gov/pubmed/25155018