abnormal mitral valve cusp morphology_Dchs1<tm1.2Irv>/Dchs1<+>

http://metadb.riken.jp/0010614I129S7SvEvBrdC57BL6Dchs1tm12IrvDchs1Dchs1Dchs1tm12Irv

abnormal mitral valve cusp morphology_Dchs1<tm1.2Irv>/Dchs1<+>

表現型アノテーション

MGI marker

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

• dachsous 1 (Drosophila)
  http://metadb.riken.jp/db/mgi_rdf/MGI:2685011

遺伝子型

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

• Dchs1<tm1.2Irv>/Dchs1<+>

アレルシンボル

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

• Dchs1<+>|Dchs1<tm1.2Irv>

遺伝的背景

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

• involves: 129S7/SvEvBrd * C57BL/6

MP annotation

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

• abnormal mitral valve cusp morphology
  http://purl.obolibrary.org/obo/MP_0010614

文献

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

• Ronen. Durst, et.al., Mutations in DCHS1 cause mitral valve prolapse., Nature, 2015, 525
  http://rdf.ncbi.nlm.nih.gov/pubmed/26258302