abnormal skeleton morphology_Col2a1<Lpk>/Col2a1<+>

http://metadb.riken.jp/0005508CB6C3Col2a1LpkCol2a1LpkCol2a1Col2a1Col2a1Lpk

abnormal skeleton morphology_Col2a1<Lpk>/Col2a1<+>

表現型アノテーション

MGI marker

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

• collagen, type II, alpha 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:88452

遺伝子型

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

• Col2a1<Lpk>/Col2a1<+>

アレルシンボル

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

• Col2a1<+>|Col2a1<Lpk>

遺伝的背景

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

• C.B6(C3)-Col2a1<Lpk>

MP annotation

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

• abnormal skeleton morphology
  http://purl.obolibrary.org/obo/MP_0005508

文献

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

• Christopher T. Esapa, et.al., A mouse model for spondyloepiphyseal dysplasia congenita with secondary osteoarthritis due to a Col2a1 mutation., Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2012, 27
  http://rdf.ncbi.nlm.nih.gov/pubmed/22028304