hydroencephaly_Fig4<plt1>/Fig4<plt1>,Tg(ACTB-Fig4*I41T)705Mm/0

http://metadb.riken.jp/0001891I129C3HC57BL6JCASTEiSJLFig4plt1Fig4plt1TgACTBFig4I41T705Mm0Fig4plt1TgACTBFig4I41T705Mm

hydroencephaly_Fig4<plt1>/Fig4<plt1>,Tg(ACTB-Fig4*I41T)705Mm/0

表現型アノテーション

MGI marker

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

• transgene insertion 705, Miriam H Meisler
  http://metadb.riken.jp/db/mgi_rdf/MGI:5014373
• 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>,Tg(ACTB-Fig4*I41T)705Mm/0

アレルシンボル

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

• Fig4<plt1>|Tg(ACTB-Fig4*I41T)705Mm

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

• hydroencephaly
  http://purl.obolibrary.org/obo/MP_0001891

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