abnormal aorta wall morphology_Fbn1<tm1Hcd>/Fbn1<+>,Tgfb2<tm1Doe>/Tgfb2<+>

http://metadb.riken.jp/0009866I129P2OlaHsd129S1Sv129X1SvJC57BL6JFbn1tm1HcdFbn1Tgfb2tm1DoeTgfb2Tgfb2Fbn1tm1HcdTgfb2tm1DoeFbn1

abnormal aorta wall morphology_Fbn1<tm1Hcd>/Fbn1<+>,Tgfb2<tm1Doe>/Tgfb2<+>

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
• transforming growth factor, beta 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:98726

遺伝子型

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

• Fbn1<tm1Hcd>/Fbn1<+>,Tgfb2<tm1Doe>/Tgfb2<+>

アレルシンボル

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

• Tgfb2<+>|Fbn1<tm1Hcd>|Tgfb2<tm1Doe>|Fbn1<+>

遺伝的背景

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

• involves: 129P2/OlaHsd * 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