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Symbol
Name
ID
Bloc1s5
biogenesis of lysosomal organelles complex-1, subunit 5, muted
MGI:2178598
Phenotype annotations related to vision/eye
Darker colors indicate more annotations
Human Phenotypes
Astigmatism
Cataract
Iris hypopigmentation
Ocular albinism
Abnormal optic nerve morphology
Abnormality of visual evoked potentials
Strabismus
Nystagmus
Myopia
Photophobia
Visual impairment
Amblyopia
Disease(s) Associated with BLOC1S5
Hermansky-Pudlak syndrome

Mouse Phenotypes
abnormal retina vasculature morphology
abnormal retina blood vessel morphology
abnormal eye pigmentation
abnormal iris pigmentation
abnormal retina pigment epithelium morphology
decreased eye pigmentation
abnormal iris morphology
abnormal retina morphology
Availability Mouse Genotype
Bloc1s5em1(IMPC)Tcp/Bloc1s5em1(IMPC)Tcp
Bloc1s5mu/Bloc1s5mu

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
04/16/2024
MGI 6.23
The Jackson Laboratory