perinatal lethality, incomplete penetrance_Col4a1<deltaex40>/Col4a1<+>

http://metadb.riken.jp/0011090B6129SCol4a1deltaex40Col4a1deltaex40Col4a1Col4a1Col4a1deltaex40

perinatal lethality, incomplete penetrance_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<+>|Col4a1<deltaex40>

遺伝的背景

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

• B6.129S-Col4a1<deltaex40>

MP annotation

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

• partial perinatal lethality
  http://purl.obolibrary.org/obo/MP_0011090

文献

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

• Douglas B. Gould, et.al., Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly., Science (New York, N.Y.), 2005, 308
  http://rdf.ncbi.nlm.nih.gov/pubmed/15905400