abnormal retinal pigment epithelium morphology_Hps5<ru2>/Hps5<ru2>

http://metadb.riken.jp/0005201IC57BLHps5ru2Hps5ru2Hps5ru2

abnormal retinal pigment epithelium morphology_Hps5<ru2>/Hps5<ru2>

表現型アノテーション

MGI marker

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

• HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:2180307

遺伝子型

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

• Hps5<ru2>/Hps5<ru2>

アレルシンボル

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

• Hps5<ru2>

遺伝的背景

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

• involves: C57BL

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

• Qing. Zhang, et.al., Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6., Nature genetics, 2003, 33
  http://rdf.ncbi.nlm.nih.gov/pubmed/12548288