abnormal long bone epiphysis morphology_Hspg2<tm1Rdgr>/Hspg2<tm1Rdgr>

http://metadb.riken.jp/0000131I129S1Sv129X1SvJHspg2tm1RdgrHspg2tm1RdgrHspg2tm1Rdgr

abnormal long bone epiphysis morphology_Hspg2<tm1Rdgr>/Hspg2<tm1Rdgr>

表現型アノテーション

MGI marker

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

• perlecan (heparan sulfate proteoglycan 2)
  http://metadb.riken.jp/db/mgi_rdf/MGI:96257

遺伝子型

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

• Hspg2<tm1Rdgr>/Hspg2<tm1Rdgr>

アレルシンボル

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

• Hspg2<tm1Rdgr>

遺伝的背景

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

• involves: 129S1/Sv * 129X1/SvJ

MP annotation

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

• abnormal long bone epiphysis morphology
  http://purl.obolibrary.org/obo/MP_0000131

文献

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

• Kathryn D. Rodgers, et.al., Reduced perlecan in mice results in chondrodysplasia resembling Schwartz-Jampel syndrome., Human molecular genetics, 2007, 16
  http://rdf.ncbi.nlm.nih.gov/pubmed/17213231