abnormal craniofacial bone morphology_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>

http://metadb.riken.jp/0002116I129S6SvEvTacC57BL6JCol2a1tm1DshhCol2a1tm1DshhCol2a1tm1Dshh

abnormal craniofacial bone morphology_Col2a1<tm1Dshh>/Col2a1<tm1Dshh>

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<tm1Dshh>/Col2a1<tm1Dshh>

アレルシンボル

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

• Col2a1<tm1Dshh>

遺伝的背景

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

• involves: 129S6/SvEvTac * C57BL/6J

MP annotation

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

• abnormal craniofacial bone morphology
  http://purl.obolibrary.org/obo/MP_0002116

文献

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

• Guoyan. Liang, et.al., Endoplasmic reticulum stress-unfolding protein response-apoptosis cascade causes chondrodysplasia in a col2a1 p.Gly1170Ser mutated mouse model., PloS one, 2014, 9
  http://rdf.ncbi.nlm.nih.gov/pubmed/24475193