impaired hearing_Col2a1<sedc>/Col2a1<sedc>

http://metadb.riken.jp/0006325IC57BL6JCol2a1sedcCol2a1sedcCol2a1sedc

impaired hearing_Col2a1<sedc>/Col2a1<sedc>

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<sedc>/Col2a1<sedc>

アレルシンボル

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

• Col2a1<sedc>

遺伝的背景

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

• involves: C57BL/6J

MP annotation

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

• impaired hearing
  http://purl.obolibrary.org/obo/MP_0006325

文献

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

• Leah Rae. Donahue, et.al., A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis., Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2003, 18
  http://rdf.ncbi.nlm.nih.gov/pubmed/12968670