Mice carrying coa mutations are characterized by hypopigmentation and platelet dysfunction, similar to Hermansky-Pudlak syndrome (HPS) in humans. The syndrome compromises a group of human disorders of organelle biogenesis characterized by defective synthesis of melanosomes, lysosomes, and platelet dense granules.
The underlying mutation responsible for the phenotype in the Hps3coa-5J mouse was identified as an A to T substitution. This mutation creates a stop codon, Lys627Stop.
The coa5J re-mutation arose spontaneously on the B10.A/SgSnJ strain of The Jackson Laboratory production colony in 1994 when that strain was at F58. It was maintained via sibling mating, primarily homozygote x heterozygote, then in 1995 and 1996 embryos were generated for cryopreservation from heterozygous females and homozygous males that were at generation F58+3 to F58+6. coa5J was shown to be a cocoa allele through allele test with the original coa mutation.
|Allele Name||cocoa 5 Jackson|
|Gene Symbol and Name||Hps3, HPS3, biogenesis of lysosomal organelles complex 2 subunit 1|
|Strain of Origin||B10.A-H2a H2-T18a/SgSnJ|
|General Note||Other alleles of this gene serve as models for HERMANSKY-PUDLAK SYNDROME. This allele was never studied in this context.|
|Molecular Note||The underlying mutation responsible for the phenotype in the coa5J mouse was identified as an A-to-T substitution. This mutation creates a stop codon, fom a lysine codon at position 627 (p.K627*).|