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

Jianning. Tao, et.al., A spontaneous Fatp4/Scl27a4 splice site mutation in a new murine model for congenital ichthyosis., PloS one, 2012, 7

pubmed

allele

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

• Slc27a4<pskn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5475225

class

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

• Slc27a4<pskn>
  http://metadb.riken.jp/db/mgi_rdf/MGI:5475225

表現型アノテーション

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

• abnormal epidermis stratum spinosum morphology_Slc27a4<pskn>/Slc27a4<pskn>
  http://metadb.riken.jp/0001236IFVBSlc27a4psknSlc27a4psknSlc27a4pskn
• epidermal necrosis_Slc27a4<pskn>/Slc27a4<pskn>
  http://metadb.riken.jp/0001220IFVBSlc27a4psknSlc27a4psknSlc27a4pskn
• increased keratinocyte proliferation_Slc27a4<pskn>/Slc27a4<pskn>
  http://metadb.riken.jp/0009583IFVBSlc27a4psknSlc27a4psknSlc27a4pskn
• abnormal skin appearance_Slc27a4<pskn>/Slc27a4<pskn>
  http://metadb.riken.jp/0009931IFVBSlc27a4psknSlc27a4psknSlc27a4pskn
• tight skin_Slc27a4<pskn>/Slc27a4<pskn>
  http://metadb.riken.jp/0001198IFVBSlc27a4psknSlc27a4psknSlc27a4pskn
• neonatal lethality, complete penetrance_Slc27a4<pskn>/Slc27a4<pskn>
  http://metadb.riken.jp/0011087IFVBSlc27a4psknSlc27a4psknSlc27a4pskn
• micrognathia_Slc27a4<pskn>/Slc27a4<pskn>
  http://metadb.riken.jp/0002639IFVBSlc27a4psknSlc27a4psknSlc27a4pskn
• impaired skin barrier function_Bmp4<tm2.1Blh>/Bmp4<+>,Slc27a4<pskn>/Slc27a4<pskn>
  http://metadb.riken.jp/0002796I129S6SvEvTacFVBNBmp4tm21BlhBmp4Slc27a4psknSlc27a4psknSlc27a4psknBmp4tm21BlhBmp4
• abnormal epidermal layer morphology_Slc27a4<pskn>/Slc27a4<pskn>
  http://metadb.riken.jp/0001216IFVBSlc27a4psknSlc27a4psknSlc27a4pskn
• abnormal keratohyalin granule morphology_Slc27a4<pskn>/Slc27a4<pskn>
  http://metadb.riken.jp/0009602IFVBSlc27a4psknSlc27a4psknSlc27a4pskn
• shiny skin_Slc27a4<pskn>/Slc27a4<pskn>
  http://metadb.riken.jp/0001196IFVBSlc27a4psknSlc27a4psknSlc27a4pskn
• absent gastric milk in neonates_Slc27a4<pskn>/Slc27a4<pskn>
  http://metadb.riken.jp/0009546IFVBSlc27a4psknSlc27a4psknSlc27a4pskn
• abnormal posture_Slc27a4<pskn>/Slc27a4<pskn>
  http://metadb.riken.jp/0001504IFVBSlc27a4psknSlc27a4psknSlc27a4pskn
• hyperkeratosis_Slc27a4<pskn>/Slc27a4<pskn>
  http://metadb.riken.jp/0001242IFVBSlc27a4psknSlc27a4psknSlc27a4pskn
• protruding tongue_Slc27a4<pskn>/Slc27a4<pskn>
  http://metadb.riken.jp/0009908IFVBSlc27a4psknSlc27a4psknSlc27a4pskn
• thick epidermis_Slc27a4<pskn>/Slc27a4<pskn>
  http://metadb.riken.jp/0001219IFVBSlc27a4psknSlc27a4psknSlc27a4pskn
• decreased hair follicle number_Bmp4<tm2.1Blh>/Bmp4<+>,Slc27a4<pskn>/Slc27a4<pskn>
  http://metadb.riken.jp/0000379I129S6SvEvTacFVBNBmp4tm21BlhBmp4Slc27a4psknSlc27a4psknSlc27a4psknBmp4tm21BlhBmp4