About   Help   FAQ
Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Bloc1s5
biogenesis of lysosomal organelles complex-1, subunit 5, muted
MGI:2178598
35 phenotypes from 3 alleles in 4 genetic backgrounds
Export: Excel File
Allelic Composition
Genetic Background		 Annotated Term Reference
Bloc1s5em1(IMPC)Tcp/Bloc1s5em1(IMPC)Tcp
C57BL/6NCrl-Bloc1s5em1(IMPC)Tcp/Cmmr 		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 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory