abnormal aorta wall morphology_Fbn1<tm1Hcd>/Fbn1<+>

http://metadb.riken.jp/0009866I129S1Sv129X1SvJC57BL6JFbn1tm1HcdFbn1Fbn1tm1HcdFbn1

abnormal aorta wall morphology_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

• abnormal aorta wall morphology
  http://purl.obolibrary.org/obo/MP_0009866

文献

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

• Mark E. Lindsay, et.al., Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm., Nature genetics, 2012, 44
  http://rdf.ncbi.nlm.nih.gov/pubmed/22772368
• 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