cataract_Col4a1<D456>/Col4a1<+>

http://metadb.riken.jp/0001304C3D2Col4a1D456Col4a1D456Col4a1Col4a1D456Col4a1

cataract_Col4a1<D456>/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<D456>/Col4a1<+>

アレルシンボル

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

• Col4a1<D456>|Col4a1<+>

遺伝的背景

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

• C3.D2-Col4a1<D456>

MP annotation

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

• cataracts
  http://purl.obolibrary.org/obo/MP_0001304

文献

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

• Jack. Favor, et.al., Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identification of the first two Col4a2 mutant alleles., Genetics, 2007, 175
  http://rdf.ncbi.nlm.nih.gov/pubmed/17179069