abnormal melanosome morphology_Hps1<ep>/Hps1<ep>

http://metadb.riken.jp/0005075IC3HeBFeJC57BL6JHps1epHps1epHps1ep

abnormal melanosome morphology_Hps1<ep>/Hps1<ep>

表現型アノテーション

MGI marker

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

• HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
  http://metadb.riken.jp/db/mgi_rdf/MGI:2177763

遺伝子型

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

• Hps1<ep>/Hps1<ep>

アレルシンボル

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

• Hps1<ep>

遺伝的背景

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

• involves: C3HeB/FeJ * C57BL/6J

MP annotation

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

• abnormal melanosome morphology
  http://purl.obolibrary.org/obo/MP_0005075

文献

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

• J M. Gardner, et.al., The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome., Proceedings of the National Academy of Sciences of the United States of America, 1997, 94
  http://rdf.ncbi.nlm.nih.gov/pubmed/9256466