spina bifida_Lrp6<skax26>/Lrp6<+>,Vangl2<Lp>/Vangl2<+>

http://metadb.riken.jp/0003054IAJ129S6SvEvTacC57BL6C57BL6JLrp6skax26Lrp6Vangl2LpVangl2Lrp6skax26Lrp6Vangl2LpVangl2

spina bifida_Lrp6<skax26>/Lrp6<+>,Vangl2<Lp>/Vangl2<+>

表現型アノテーション

MGI marker

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

• low density lipoprotein receptor-related protein 6
  http://metadb.riken.jp/db/mgi_rdf/MGI:1298218
• vang-like 2 (van gogh, Drosophila)
  http://metadb.riken.jp/db/mgi_rdf/MGI:2135272

遺伝子型

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

• Lrp6<skax26>/Lrp6<+>,Vangl2<Lp>/Vangl2<+>

アレルシンボル

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

• Lrp6<skax26>|Lrp6<+>|Vangl2<Lp>|Vangl2<+>

遺伝的背景

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

• involves: A/J * 129S6/SvEvTac * C57BL/6 * C57BL/6J

MP annotation

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

• spina bifida
  http://purl.obolibrary.org/obo/MP_0003054

文献

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

• Redouane. Allache, et.al., Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway., Human molecular genetics, 2014, 23
  http://rdf.ncbi.nlm.nih.gov/pubmed/24203697