abnormal long bone epiphyseal plate morphology_Cdkn1a<tm1Led>/Cdkn1a<tm1Led>,Fgfr3<tm1Cxd>/Fgfr3<tm1Cxd>

http://metadb.riken.jp/0003055I129S6SvEvTacNIHBlackSwissCdkn1atm1LedCdkn1atm1LedFgfr3tm1CxdFgfr3tm1CxdCdkn1atm1LedFgfr3tm1Cxd

abnormal long bone epiphyseal plate morphology_Cdkn1a<tm1Led>/Cdkn1a<tm1Led>,Fgfr3<tm1Cxd>/Fgfr3<tm1Cxd>

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
• cyclin-dependent kinase inhibitor 1A (P21)
  http://metadb.riken.jp/db/mgi_rdf/MGI:104556

遺伝子型

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

• Cdkn1a<tm1Led>/Cdkn1a<tm1Led>,Fgfr3<tm1Cxd>/Fgfr3<tm1Cxd>

アレルシンボル

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

• Cdkn1a<tm1Led>|Fgfr3<tm1Cxd>

遺伝的背景

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

• involves: 129S6/SvEvTac * NIH Black Swiss

MP annotation

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

• abnormal long bone epiphyseal plate morphology
  http://purl.obolibrary.org/obo/MP_0003055

文献

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

• C. Li, et.al., A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors., Human molecular genetics, 1999, 8
  http://rdf.ncbi.nlm.nih.gov/pubmed/9887329