abnormal craniofacial morphology_Fgfr2<tm1Schl>/Fgfr2<+>

http://metadb.riken.jp/0000428I129S1SvFgfr2tm1SchlFgfr2Fgfr2Fgfr2tm1Schl

abnormal craniofacial morphology_Fgfr2<tm1Schl>/Fgfr2<+>

表現型アノテーション

MGI marker

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

• fibroblast growth factor receptor 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:95523

遺伝子型

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

• Fgfr2<tm1Schl>/Fgfr2<+>

アレルシンボル

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

• Fgfr2<+>|Fgfr2<tm1Schl>

遺伝的背景

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

• involves: 129S1/Sv

MP annotation

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

• abnormal craniofacial morphology
  http://purl.obolibrary.org/obo/MP_0000428

文献

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

• V P. Eswarakumar, et.al., Attenuation of signaling pathways stimulated by pathologically activated FGF-receptor 2 mutants prevents craniosynostosis., Proceedings of the National Academy of Sciences of the United States of America, 2006, 103
  http://rdf.ncbi.nlm.nih.gov/pubmed/17132737