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 Hps3^coa-5J mouse was identified as an A to T substitution. This mutation creates a stop codon, Lys627Stop.

Development

The coa^5J 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. coa^5J was shown to be a cocoa allele through allele test with the original coa mutation.

Control Suggestions

Heterozygote from the colony
000469 B10.A-H2^a H2-T18^a/SgSnJ

Additional Information

Considerations for Choosing Controls

Genetics

Hps3^coa-5J

Allele Symbol: Hps3^coa-5J

Allele Name	cocoa 5 Jackson
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-H2^a H2-T18^a/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 coa^5J mouse was identified as an A-to-T substitution. This mutation creates a stop codon, fom a lysine codon at position 627 (p.K627*).

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

This mouse can be used to support research in many areas including:

Genotype: Hps3^coa-5J related

Dermatology Research
- Color and White Spotting Defects
Hematological Research
- Platelet Defects
  - platelet storage pool deficiency

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Hps3^coa-5J/Hps3^coa-5J
B10.A/SgSnJ-Hps3

mammalian phenotype

no phenotypic analysis
- Normal - molecular mutation was determined but no phenotypic analysis provided
- Normal - no phenotypic description is provided other than the statement that this is a remutation to coa

References

Additional - Hps3^coa-5J related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Citation
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.

Animal Health Reports

Facility Barrier Level Descriptions

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	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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General Terms and Conditions

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Licensing Information

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Also Known As:cocoa 5 Jackson

Genetic overview

Research Applications

Base Price

Detailed Description