abnormal aorta elastic tissue morphology_Col3a1<m1Lsmi>/Col3a1<+>

http://metadb.riken.jp/0009862I129P2OlaHsdC57BL6JCol3a1m1LsmiCol3a1Col3a1m1LsmiCol3a1

abnormal aorta elastic tissue morphology_Col3a1<m1Lsmi>/Col3a1<+>

表現型アノテーション

MGI marker

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

• collagen, type III, alpha 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:88453

遺伝子型

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

• Col3a1<m1Lsmi>/Col3a1<+>

アレルシンボル

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

• Col3a1<m1Lsmi>|Col3a1<+>

遺伝的背景

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

• involves: 129P2/OlaHsd * C57BL/6J

MP annotation

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

• abnormal aorta elastic tissue morphology
  http://purl.obolibrary.org/obo/MP_0009862

文献

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

• Lee B. Smith, et.al., Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers-Danlos syndrome., Cardiovascular research, 2011, 90
  http://rdf.ncbi.nlm.nih.gov/pubmed/21071432