abnormal heart left ventricle morphology_Sgca<tm1Kcam>/Sgca<tm1Kcam>,Sgce<tm1Vinni>/Sgce<tm1Vinni>

http://metadb.riken.jp/0003921I129P2OlaHsd129S1Sv129X1SvJC57BL6JSgcatm1KcamSgcatm1KcamSgcetm1VinniSgcetm1VinniSgcatm1KcamSgcetm1Vinni

abnormal heart left ventricle morphology_Sgca<tm1Kcam>/Sgca<tm1Kcam>,Sgce<tm1Vinni>/Sgce<tm1Vinni>

表現型アノテーション

MGI marker

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

• sarcoglycan, epsilon
  http://metadb.riken.jp/db/mgi_rdf/MGI:1329042
• sarcoglycan, alpha (dystrophin-associated glycoprotein)
  http://metadb.riken.jp/db/mgi_rdf/MGI:894698

遺伝子型

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

• Sgca<tm1Kcam>/Sgca<tm1Kcam>,Sgce<tm1Vinni>/Sgce<tm1Vinni>

アレルシンボル

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

• Sgca<tm1Kcam>|Sgce<tm1Vinni>

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 heart left ventricle morphology
  http://purl.obolibrary.org/obo/MP_0003921

文献

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

• Alessio. Lancioni, et.al., Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex., Human molecular genetics, 2011, 20
  http://rdf.ncbi.nlm.nih.gov/pubmed/21890494