optic nerve hypoplasia_Col4a1<deltaex40>/Col4a1<+>

http://metadb.riken.jp/0006221I129SSvEvC57BL6JCol4a1deltaex40Col4a1Col4a1deltaex40Col4a1

optic nerve hypoplasia_Col4a1<deltaex40>/Col4a1<+>

表現型アノテーション

MGI marker

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

• collagen, type IV, alpha 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:88454

遺伝子型

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

• Col4a1<deltaex40>/Col4a1<+>

アレルシンボル

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

• Col4a1<deltaex40>|Col4a1<+>

遺伝的背景

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

• involves: 129S/SvEv * C57BL/6J

MP annotation

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

• optic nerve hypoplasia
  http://purl.obolibrary.org/obo/MP_0006221

文献

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

• Cassandre. Labelle-Dumais, et.al., COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans., PLoS genetics, 2011, 7
  http://rdf.ncbi.nlm.nih.gov/pubmed/21625620