Target

Gene symbol :  
Bloc1s1
NCBI gene ID :  
14533
Gene full name :  
Biogenesis of lysosomal organelles complex 1 subunit 1
Synonym :  
BLOS1

Protein function

Protein name :  
BLOC-1 subunit 1
Component of the BLOC-1 complex required for endosomal trafficking and lysosome-related organelle biogenesis

Expected phenotype

Disrupted vesicle trafficking, pigmentation and neuronal defects reported in complex-level mutations

Human disease relevance

Hermansky-Pudlak syndrome spectrum disorders

Model applications

Vesicle trafficking, lysosomal biology models

Keywords:

endosome transport, lysosome-related organelles

Availability & Delivery:

  • Cryo-recovery using in-house SOPF facilities
  • Worldwide delivery by professional breeders

Bloc1s1

conditional Knockout mouse

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