abnormal joint morphology_Comp<tm2.1Mbri>/Comp<tm2.1Mbri>

http://metadb.riken.jp/0002932I129S1Sv129X1SvJComptm21MbriComptm21MbriComptm21Mbri

abnormal joint morphology_Comp<tm2.1Mbri>/Comp<tm2.1Mbri>

表現型アノテーション

MGI marker

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

• cartilage oligomeric matrix protein
  http://metadb.riken.jp/db/mgi_rdf/MGI:88469

遺伝子型

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

• Comp<tm2.1Mbri>/Comp<tm2.1Mbri>

アレルシンボル

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

• Comp<tm2.1Mbri>

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 joint morphology
  http://purl.obolibrary.org/obo/MP_0002932

文献

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

• Farhana. Suleman, et.al., A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia., Human mutation, 2012, 33
  http://rdf.ncbi.nlm.nih.gov/pubmed/22006726