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Symbol
Name
ID
Bloc1s3
biogenesis of lysosomal organelles complex-1, subunit 3
MGI:2678952
Phenotype annotations related to vision/eye
Darker colors indicate more annotations
Human Phenotypes
Astigmatism
Myopic astigmatism
Blue irides
Ocular albinism
Iris transillumination defect
Optic disc pallor
Hypoplasia of the fovea
Esotropia
Exotropia
Nystagmus
Horizontal nystagmus
Pendular nystagmus
Hypermetropia
High hypermetropia
Moderate hypermetropia
Myopia
High myopia
Reduced visual acuity
Disease(s) Associated with BLOC1S3
Hermansky-Pudlak syndrome 8

Mouse Phenotypes
abnormal eye pigmentation
Availability Mouse Genotype
Bloc1s3rp/Bloc1s3rp

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