ocular hypertelorism_Fgfr1<tm2.1Cxd>/Fgfr1<+>

http://metadb.riken.jp/0001300I129S6SvEvTacFVBNFgfr1tm21CxdFgfr1Fgfr1Fgfr1tm21Cxd

ocular hypertelorism_Fgfr1<tm2.1Cxd>/Fgfr1<+>

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 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:95522

遺伝子型

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

• Fgfr1<tm2.1Cxd>/Fgfr1<+>

アレルシンボル

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

• Fgfr1<+>|Fgfr1<tm2.1Cxd>

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

• ocular hypertelorism
  http://purl.obolibrary.org/obo/MP_0001300

文献

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

• Y X. Zhou, et.al., A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures., Human molecular genetics, 2000, 9
  http://rdf.ncbi.nlm.nih.gov/pubmed/10942429