decreased lysosomal enzyme secretion_Bloc1s4<cno>/Bloc1s4<cno>

http://metadb.riken.jp/0003173C3HHeJBloc1s4cnoBloc1s4cnoBloc1s4cnoBloc1s4cno

decreased lysosomal enzyme secretion_Bloc1s4<cno>/Bloc1s4<cno>

表現型アノテーション

MGI marker

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

• biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
  http://metadb.riken.jp/db/mgi_rdf/MGI:1929230

遺伝子型

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

• Bloc1s4<cno>/Bloc1s4<cno>

アレルシンボル

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

• Bloc1s4<cno>

遺伝的背景

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

• C3H/HeJ-Bloc1s4<cno>

MP annotation

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

• decreased lysosomal enzyme secretion
  http://purl.obolibrary.org/obo/MP_0003173

文献

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

• B. Gwynn, et.al., Defects in the cappuccino (cno) gene on mouse chromosome 5 and human 4p cause Hermansky-Pudlak syndrome by an AP-3-independent mechanism., Blood, 2000, 96
  http://rdf.ncbi.nlm.nih.gov/pubmed/11110696