kyphosis_Fbn1<tm1Hcd>/Fbn1<+>

http://metadb.riken.jp/0000160I129S1Sv129X1SvJC57BL6JFbn1tm1HcdFbn1Fbn1tm1HcdFbn1

kyphosis_Fbn1<tm1Hcd>/Fbn1<+>

表現型アノテーション

MGI marker

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

• fibrillin 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:95489

遺伝子型

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

• Fbn1<tm1Hcd>/Fbn1<+>

アレルシンボル

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

• Fbn1<tm1Hcd>|Fbn1<+>

遺伝的背景

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

• involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

MP annotation

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

• kyphosis
  http://purl.obolibrary.org/obo/MP_0000160

文献

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

• Daniel P. Judge, et.al., Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome., The Journal of clinical investigation, 2004, 114
  http://rdf.ncbi.nlm.nih.gov/pubmed/15254584