enlarged lateral ventricles_Fig4<plt1>/Fig4<plt1>,Tg(ACTB-Fig4*I41T)721Mm/0

http://metadb.riken.jp/0008535I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1TgACTBFig4I41T721Mm0TgACTBFig4I41T721MmFig4plt1

enlarged lateral ventricles_Fig4<plt1>/Fig4<plt1>,Tg(ACTB-Fig4*I41T)721Mm/0

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
• transgene insertion 721, Miriam H Meisler
  http://metadb.riken.jp/db/mgi_rdf/MGI:5014488

遺伝子型

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

• Fig4<plt1>/Fig4<plt1>,Tg(ACTB-Fig4*I41T)721Mm/0

アレルシンボル

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

• Tg(ACTB-Fig4*I41T)721Mm|Fig4<plt1>

遺伝的背景

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

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

MP annotation

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

• enlarged lateral ventricles
  http://purl.obolibrary.org/obo/MP_0008535

文献

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

• Guy M. Lenk, et.al., Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J., PLoS genetics, 2011, 7
  http://rdf.ncbi.nlm.nih.gov/pubmed/21655088