abnormal nerve conduction_Fig4<plt1>/Fig4<plt1>

http://metadb.riken.jp/0005403I129P2OlaHsdC3HC57BL6CASTEiSJLFig4plt1Fig4plt1Fig4plt1

abnormal nerve conduction_Fig4<plt1>/Fig4<plt1>

表現型アノテーション

MGI marker

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

• FIG4 phosphoinositide 5-phosphatase
  http://metadb.riken.jp/db/mgi_rdf/MGI:2143585

遺伝子型

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

• Fig4<plt1>/Fig4<plt1>

アレルシンボル

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

• Fig4<plt1>

遺伝的背景

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

• involves: 129P2/OlaHsd * C3H * C57BL/6 * CAST/Ei * SJL

MP annotation

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

• abnormal nerve conduction
  http://purl.obolibrary.org/obo/MP_0005403

文献

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

• Clement Y. Chow, et.al., Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J., Nature, 2007, 448
  http://rdf.ncbi.nlm.nih.gov/pubmed/17572665
• C J. Ferguson, et.al., Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration., Human molecular genetics, 2012, 21
  http://rdf.ncbi.nlm.nih.gov/pubmed/22581779