Article
Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles.
Neuron - 1 Jul 1998
Kantheti P, Qiao X, Diaz M E, Peden A A, Meyer G E, Carskadon S L, Kapfhamer D, Sufalko D, Robinson M S, Noebels J L, Burmeister M
Abstract excerpt
The mouse mutant mocha, a model for the Hermansky-Pudlak storage pool deficiency syndrome, is characterized by defective platelets, coat and eye color dilution, lysosomal abnormalities, inner ear degeneration, and neurological deficits. Here, we show that mocha is a null allele of the delta subun...
Topics
- Adaptor Protein Complex 3
- Adaptor Protein Complex beta Subunits
- Alleles
- Animals
- Base Sequence
- Biological Transport
- Blood Platelets
- Central Nervous System
- Chromosome Mapping
- Endosomes
- Gene Rearrangement
- Melanocytes
- Mice
- Mice, Inbred C57BL