abnormal neuromuscular synapse morphology_Tg(Prnp-FUS*R521C)3313Ejh/0

http://metadb.riken.jp/0001053IC57BL6SJLTgPrnpFUSR521C3313Ejh0TgPrnpFUSR521C3313Ejh

abnormal neuromuscular synapse morphology_Tg(Prnp-FUS*R521C)3313Ejh/0

表現型アノテーション

MGI marker

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

• transgene insertion 3313, Eric J Huang
  http://metadb.riken.jp/db/mgi_rdf/MGI:5618416

遺伝子型

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

• Tg(Prnp-FUS*R521C)3313Ejh/0

アレルシンボル

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

• Tg(Prnp-FUS*R521C)3313Ejh

遺伝的背景

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

• involves: C57BL/6 * SJL

MP annotation

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

• abnormal neuromuscular synapse morphology
  http://purl.obolibrary.org/obo/MP_0001053

文献

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

• Haiyan. Qiu, et.al., ALS-associated mutation FUS-R521C causes DNA damage and RNA splicing defects., The Journal of clinical investigation, 2014, 124
  http://rdf.ncbi.nlm.nih.gov/pubmed/24509083