impaired skin barrier function_Bmp4<tm2.1Blh>/Bmp4<+>,Slc27a4<pskn>/Slc27a4<pskn>

http://metadb.riken.jp/0002796I129S6SvEvTacFVBNBmp4tm21BlhBmp4Slc27a4psknSlc27a4psknSlc27a4psknBmp4tm21BlhBmp4

impaired skin barrier function_Bmp4<tm2.1Blh>/Bmp4<+>,Slc27a4<pskn>/Slc27a4<pskn>

表現型アノテーション

MGI marker

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

• solute carrier family 27 (fatty acid transporter), member 4
  http://metadb.riken.jp/db/mgi_rdf/MGI:1347347
• bone morphogenetic protein 4
  http://metadb.riken.jp/db/mgi_rdf/MGI:88180

遺伝子型

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

• Bmp4<tm2.1Blh>/Bmp4<+>,Slc27a4<pskn>/Slc27a4<pskn>

アレルシンボル

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

• Slc27a4<pskn>|Bmp4<tm2.1Blh>|Bmp4<+>

遺伝的背景

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

• involves: 129S6/SvEvTac * FVB/N

MP annotation

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

• impaired skin barrier function
  http://purl.obolibrary.org/obo/MP_0002796

文献

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

• Jianning. Tao, et.al., A spontaneous Fatp4/Scl27a4 splice site mutation in a new murine model for congenital ichthyosis., PloS one, 2012, 7
  http://rdf.ncbi.nlm.nih.gov/pubmed/23226340