abnormal cranium morphology_Fgfr3<tm5.1Cxd>/Fgfr3<+>

http://metadb.riken.jp/0000438I129S6SvEvTacFgfr3tm51CxdFgfr3Fgfr3Fgfr3tm51Cxd

abnormal cranium morphology_Fgfr3<tm5.1Cxd>/Fgfr3<+>

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 3
  http://metadb.riken.jp/db/mgi_rdf/MGI:95524

遺伝子型

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

• Fgfr3<tm5.1Cxd>/Fgfr3<+>

アレルシンボル

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

• Fgfr3<+>|Fgfr3<tm5.1Cxd>

遺伝的背景

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

• involves: 129S6/SvEvTac

MP annotation

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

• abnormal cranium morphology
  http://purl.obolibrary.org/obo/MP_0000438

文献

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

• L. Chen, et.al., A Ser(365)-->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia., Human molecular genetics, 2001, 10
  http://rdf.ncbi.nlm.nih.gov/pubmed/11181569