abnormal retinal pigment epithelium morphology_Dtnbp1<sdy>/Dtnbp1<sdy>

http://metadb.riken.jp/0005201IDBA2JDtnbp1sdyDtnbp1sdyDtnbp1sdy

abnormal retinal pigment epithelium morphology_Dtnbp1<sdy>/Dtnbp1<sdy>

表現型アノテーション

MGI marker

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

• dystrobrevin binding protein 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:2137586

遺伝子型

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

• Dtnbp1<sdy>/Dtnbp1<sdy>

アレルシンボル

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

• Dtnbp1<sdy>

遺伝的背景

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

• involves: DBA/2J

MP annotation

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

• abnormal retinal pigment epithelium morphology
  http://purl.obolibrary.org/obo/MP_0005201

文献

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

• Wei. Li, et.al., Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)., Nature genetics, 2003, 35
  http://rdf.ncbi.nlm.nih.gov/pubmed/12923531