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

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/

トランスクリプトームデータ

http://rdf.ncbi.nlm.nih.gov/pubmed/

• CD05789
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD05789
• CD12060
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD12060
• CD30188
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD30188
• CD31643
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD31643
• CD40042
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD40042
• CD09145
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD09145
• CD02526
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD02526
• CD15252
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD15252
• CD05850
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD05850
• CD47695
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD47695
• CD20817
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD20817
• CD02328
  http://metadb.riken.jp/db/BrainTx/TranscriptomeData/CD02328

allele

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

• Bloc1s4<cno>
  http://metadb.riken.jp/db/mgi_rdf/MGI:2449643

表現型アノテーション

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

• hypopigmentation_Bloc1s4<cno>/Bloc1s4<cno>
  http://metadb.riken.jp/0005408C3HHeJBloc1s4cnoBloc1s4cnoBloc1s4cnoBloc1s4cno
• abnormal retinal pigmentation_Bloc1s4<cno>/Bloc1s4<cno>
  http://metadb.riken.jp/0005103C3HHeJBloc1s4cnoBloc1s4cnoBloc1s4cnoBloc1s4cno
• abnormal melanogenesis_Bloc1s4<cno>/Bloc1s4<cno>
  http://metadb.riken.jp/0005077C3HHeJBloc1s4cnoBloc1s4cnoBloc1s4cnoBloc1s4cno
• abnormal platelet dense granule physiology_Bloc1s4<cno>/Bloc1s4<cno>
  http://metadb.riken.jp/0009446C3HHeJBloc1s4cnoBloc1s4cnoBloc1s4cnoBloc1s4cno
• abnormal liver physiology_Bloc1s4<cno>/Bloc1s4<cno>
  http://metadb.riken.jp/0000609C3HHeJBloc1s4cnoBloc1s4cnoBloc1s4cnoBloc1s4cno
• abnormal melanosome morphology_Bloc1s4<cno>/Bloc1s4<cno>
  http://metadb.riken.jp/0005075C3HHeJBloc1s4cnoBloc1s4cnoBloc1s4cnoBloc1s4cno
• decreased eye pigmentation_Bloc1s4<cno>/Bloc1s4<cno>
  http://metadb.riken.jp/0005172C3HHeJBloc1s4cnoBloc1s4cnoBloc1s4cnoBloc1s4cno
• abnormal choroid pigmentation_Bloc1s4<cno>/Bloc1s4<cno>
  http://metadb.riken.jp/0005100C3HHeJBloc1s4cnoBloc1s4cnoBloc1s4cnoBloc1s4cno
• decreased lysosomal enzyme secretion_Bloc1s4<cno>/Bloc1s4<cno>
  http://metadb.riken.jp/0003173C3HHeJBloc1s4cnoBloc1s4cnoBloc1s4cnoBloc1s4cno
• decreased platelet ATP level_Bloc1s4<cno>/Bloc1s4<cno>
  http://metadb.riken.jp/0009448C3HHeJBloc1s4cnoBloc1s4cnoBloc1s4cnoBloc1s4cno
• impaired balance_Bloc1s4<cno>/Bloc1s4<cno>
  http://metadb.riken.jp/0001525C3HHeJBloc1s4cnoBloc1s4cnoBloc1s4cnoBloc1s4cno
• abnormal optic choroid morphology_Bloc1s4<cno>/Bloc1s4<cno>
  http://metadb.riken.jp/0005098C3HHeJBloc1s4cnoBloc1s4cnoBloc1s4cnoBloc1s4cno
• decreased platelet serotonin level_Bloc1s4<cno>/Bloc1s4<cno>
  http://metadb.riken.jp/0004725C3HHeJBloc1s4cnoBloc1s4cnoBloc1s4cnoBloc1s4cno
• head tilt_Bloc1s4<cno>/Bloc1s4<cno>
  http://metadb.riken.jp/0005191C3HHeJBloc1s4cnoBloc1s4cnoBloc1s4cnoBloc1s4cno
• abnormal kidney physiology_Bloc1s4<cno>/Bloc1s4<cno>
  http://metadb.riken.jp/0002136C3HHeJBloc1s4cnoBloc1s4cnoBloc1s4cnoBloc1s4cno
• diluted coat color_Bloc1s4<cno>/Bloc1s4<cno>
  http://metadb.riken.jp/0000371C3HHeJBloc1s4cnoBloc1s4cnoBloc1s4cnoBloc1s4cno
• decreased platelet dense granule number_Bloc1s4<cno>/Bloc1s4<cno>
  http://metadb.riken.jp/0020432C3HHeJBloc1s4cnoBloc1s4cnoBloc1s4cnoBloc1s4cno
• decreased platelet aggregation_Bloc1s4<cno>/Bloc1s4<cno>
  http://metadb.riken.jp/0009549C3HHeJBloc1s4cnoBloc1s4cnoBloc1s4cnoBloc1s4cno
• abnormal postural reflex_Bloc1s4<cno>/Bloc1s4<cno>
  http://metadb.riken.jp/0002980C3HHeJBloc1s4cnoBloc1s4cnoBloc1s4cnoBloc1s4cno
• increased bleeding time_Bloc1s4<cno>/Bloc1s4<cno>
  http://metadb.riken.jp/0005606C3HHeJBloc1s4cnoBloc1s4cnoBloc1s4cnoBloc1s4cno
• decreased platelet calcium level_Bloc1s4<cno>/Bloc1s4<cno>
  http://metadb.riken.jp/0004867C3HHeJBloc1s4cnoBloc1s4cnoBloc1s4cnoBloc1s4cno

表現型アノテーション

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

• hypopigmentation in RBRC02886
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1021590
• decreased platelet calcium level in RBRC02886
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1021595
• abnormal melanogenesis in RBRC02886
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1021584
• abnormal retinal pigmentation in RBRC02886
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1021587
• impaired balance in RBRC02886
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1021581
• decreased platelet serotonin level in RBRC02886
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1021594
• decreased platelet aggregation in RBRC02886
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1021599
• decreased lysosomal enzyme secretion in RBRC02886
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1021593
• decreased eye pigmentation in RBRC02886
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1021588
• diluted coat color in RBRC02886
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1021582
• decreased platelet dense granule number in RBRC02886
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1021600
• abnormal optic choroid morphology in RBRC02886
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1021585
• decreased platelet ATP level in RBRC02886
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1021598
• abnormal postural reflex in RBRC02886
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1021592
• respiratory system phenotype in RBRC02886
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1021736
• abnormal platelet dense granule physiology in RBRC02886
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1021597
• increased bleeding time in RBRC02886
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1021591
• abnormal choroid pigmentation in RBRC02886
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1021586
• head tilt in RBRC02886
  http://metadb.riken.jp/db/rikenbrc_mouse/Phenotype_1021589