perinatal lethality, complete penetrance_Col2a1<Rgsc856>/Col2a1<Rgsc856>

http://metadb.riken.jp/0011089IC57BL6JJclDBA2JJclCol2a1Rgsc856Col2a1Rgsc856Col2a1Rgsc856

perinatal lethality, complete penetrance_Col2a1<Rgsc856>/Col2a1<Rgsc856>

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<Rgsc856>/Col2a1<Rgsc856>

アレルシンボル

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

• Col2a1<Rgsc856>

遺伝的背景

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

• involves: C57BL/6JJcl * DBA/2JJcl

MP annotation

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

• complete perinatal lethality
  http://purl.obolibrary.org/obo/MP_0011089

文献

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

• Tatsuya. Furuichi, et.al., ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type., Mammalian genome : official journal of the International Mammalian Genome Society, 2011, 22
  http://rdf.ncbi.nlm.nih.gov/pubmed/21538020