These mice carry a spontaneous, recessive coa re-mutation at the Hps3 locus.
Read More +Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous | Hps3 | HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 |
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 |
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Allele Type | Spontaneous |
Allele Synonym(s) | |
Gene Symbol and Name | Hps3, HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 |
Gene Synonym(s) | |
Strain of Origin | B10.A-H2a H2-T18a/SgSnJ |
Chromosome | 3 |
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*). |
When using the cocoa 5 Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #002472 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous or Homozygous for Hps3<coa-5J>, 1 pair minimum |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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