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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID
Bloc1s5
biogenesis of lysosomal organelles complex-1, subunit 5, muted
MGI:2178598
37 phenotypes from 3 alleles in 4 genetic backgrounds
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Allelic Composition
Genetic Background
Annotated Term Reference
Bloc1s5em1(IMPC)Tcp/Bloc1s5+
C57BL/6NCrl-Bloc1s5em1(IMPC)Tcp/Tcp
increased monocyte cell number J:211773
Bloc1s5em1(IMPC)Tcp/Bloc1s5em1(IMPC)Tcp
C57BL/6NCrl-Bloc1s5em1(IMPC)Tcp/Tcp
abnormal coat/hair pigmentation J:211773
abnormal iris morphology J:211773
abnormal iris pigmentation J:211773
abnormal retina blood vessel morphology J:211773
abnormal retina morphology J:211773
abnormal retina vasculature morphology J:211773
abnormal seminal vesicle morphology J:211773
abnormal skin coloration J:211773
abnormal skin morphology J:211773
preweaning lethality, incomplete penetrance J:211773
Bloc1s5mu-Btlr/Bloc1s5mu-Btlr
C57BL/6J-Bloc1s5mu-Btlr
diluted coat color J:137494
head tilt J:137494
normal immune system phenotype J:137494
Bloc1s5mu/Bloc1s5mu
CHMU/Le
abnormal melanosome morphology J:75830
abnormal platelet dense granule morphology J:29151
abnormal platelet dense granule physiology J:29151
abnormal proximal convoluted tubule morphology J:29151
abnormal retina pigment epithelium morphology J:29151
decreased eye pigmentation J:75830
decreased lysosomal enzyme secretion J:29151
decreased platelet aggregation J:29151
decreased platelet dense granule number J:29151
decreased platelet serotonin level J:29151
normal hematopoietic system phenotype J:29151
hypopigmentation J:75830
increased bleeding time J:29151
Bloc1s5mu/Bloc1s5mu
involves: STOCK t
abnormal eye pigmentation J:29164
abnormal linear vestibular evoked potential J:89392
abnormal melanosome morphology J:88797
abnormal otolith morphology J:89392
abnormal platelet dense granule morphology J:29151
abnormal platelet physiology J:29151
abnormal postural reflex J:29164
abnormal proximal convoluted tubule morphology J:29151
absent otoliths J:5145
decreased platelet aggregation J:29151
decreased platelet ATP level J:29151
decreased platelet serotonin level J:29151
decreased urine protein level J:29151
diluted coat color J:29164, J:88797
head tilt J:29164
impaired swimming J:89392
increased bleeding time J:29151
lysosomal protein accumulation J:29151

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory