abnormal aorta wall morphology_Tgfb2<tm1Doe>/Tgfb2<+>

http://metadb.riken.jp/0009866STOCKTgfb2tm1DoeJTgfb2tm1DoeTgfb2Tgfb2Tgfb2tm1Doe

abnormal aorta wall morphology_Tgfb2<tm1Doe>/Tgfb2<+>

表現型アノテーション

MGI marker

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

• 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

• Tgfb2<tm1Doe>/Tgfb2<+>

アレルシンボル

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

• Tgfb2<+>|Tgfb2<tm1Doe>

遺伝的背景

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

• STOCK Tgfb2<tm1Doe>/J

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