abnormal retinal pigment epithelium morphology_Hps4<le>/Hps4<le>

http://metadb.riken.jp/0005201B6C3Pde6brd1Hps4leHps4leHps4leHps4le

abnormal retinal pigment epithelium morphology_Hps4<le>/Hps4<le>

表現型アノテーション

MGI marker

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

• HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
  http://metadb.riken.jp/db/mgi_rdf/MGI:2177742

遺伝子型

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

• Hps4<le>/Hps4<le>

アレルシンボル

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

• Hps4<le>

遺伝的背景

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

• B6.C3-Pde6b<rd1> Hps4<le>

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

• Tamio. Suzuki, et.al., Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene., Nature genetics, 2002, 30
  http://rdf.ncbi.nlm.nih.gov/pubmed/11836498