Overview

This strain is extinct, please refer to Stock No. 001025

Genetic overview

Genetic Background	Generation

Hps3^coa

Allele Type	Gene Symbol	Gene Name
Spontaneous	Hps3	HPS3, biogenesis of lysosomal organelles complex 2 subunit 1

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Research Applications

Dermatology Research
Hematological Research

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Details

Development

The cocoa mutation arose spontaneously on the C57BL/10J background at The Jackson Laboratory in 1978 when that inbred was at generation F136. This mutation was maintained through sibling inbreeding and in 1985 homozygous males at generation F136+6 were bred to C57BL/6J females to generate embryos for cryopreservation. In 2000 embryos were thawed and the line was subsequently maintained by intercrossing.

Genetics

Hps3^coa

Allele Symbol: Hps3^coa

Allele Name	cocoa
Allele Type	Spontaneous
Allele Synonym(s)	co; coa
Gene Symbol and Name	Hps3, HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
Gene Synonym(s)
Strain of Origin	C57BL/10J
Chromosome	3
Molecular Note	The underlying mutation responsible for the phenotype in the cocoa mouse was identified as an A-to-T substitution in the intron 14-exon 15 splice acceptor site, changing it from TAG to TTG. With the endogenous acceptor eleminated, a cryptic splice site is utilized within exon 15, which results in a frameshift and premature termination. Northern analysis demonstrated qualitative and quantitative differences in mRNA between wild-type and homozygous mutant animals.

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Hermansky-Pudlak syndrome 3

Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.

platelet storage pool deficiency

Research Areas By Phenotype

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

Genotype: Hps3^coa related

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

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Hps3^coa/Hps3^coa
involves: C57BL/10J

hematopoietic system phenotype

abnormal platelet dense granule physiology
- amount of mepacrine taken up by individual platets as measured by fluorescence intensity is reduced, consistent with a functional dense granule defect

decreased platelet ATP level
- Normal - lysosomal enzymes normal
- decreased ATP release, as tested using collagen as an agonist

decreased platelet dense granule number
- normal numbers of dense granules are present, as determined by the mepacrine method; however, the intragranular environment of dense granules is abnormal as only 2% of granules flash after exposure to ultraviolet light
- fewer dense bodies in platelets, with ~30% of platelets having no detectable dense granules, as examined by electron microscopy

decreased platelet aggregation

decreased platelet serotonin level
- 8-fold reduction in platelet serotonin

homeostasis/metabolism phenotype

decreased platelet serotonin level
- 8-fold reduction in platelet serotonin

abnormal platelet dense granule physiology
- amount of mepacrine taken up by individual platets as measured by fluorescence intensity is reduced, consistent with a functional dense granule defect

decreased platelet aggregation

increased bleeding time
- more than 15 minutes as opposed to 1 or 2 minutes

integument phenotype

diluted coat color
- ear pinna lack pigment at 3-4 days of age
- extremities light in color
- paler coat color in both juveniles and adults

nervous system phenotype

decreased platelet serotonin level
- 8-fold reduction in platelet serotonin

pigmentation phenotype

abnormal melanosome morphology
- few ellipsoid melanosomes
- striated melanosomes predominantly round
- shift toward more immature forms of melanosomes
- spherical multivesicular bodies also present

diluted coat color
- extremities light in color
- ear pinna lack pigment at 3-4 days of age
- paler coat color in both juveniles and adults

abnormal choroid pigmentation
- electron microscopy shows a reduced number of melanosomes in the choroid with numberous aberrant melanosomes and multilamellar bodies

abnormal retinal pigmentation
- electron microscopy shows a reduced number of melanosomes in the retinal pigment epithelium

absent eye pigmentation
- lack eye pigment

vision/eye phenotype

abnormal retinal pigmentation
- electron microscopy shows a reduced number of melanosomes in the retinal pigment epithelium

absent eye pigmentation
- lack eye pigment

abnormal choroid pigmentation
- electron microscopy shows a reduced number of melanosomes in the choroid with numberous aberrant melanosomes and multilamellar bodies

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

Genotype: Hps3^coa/Hps3^coa
B6;B10-Hps3/J

pigmentation phenotype

abnormal iris pigmentation
- iris pigmentation is near uniform hypopigmentation

vision/eye phenotype

abnormal iris pigmentation
- iris pigmentation is near uniform hypopigmentation

References

Additional - Hps3^coa related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting

Terms Of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

Genetic overview

Research Applications

Development

Hps3coa

Allele Symbol: Hps3coa

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.

Research Areas By Phenotype

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

Genotype: Hps3coa related

Mammalian Phenotype Terms by Genotype

Genotype: Hps3coa/Hps3coainvolves: C57BL/10J

hematopoietic system phenotype

homeostasis/metabolism phenotype

integument phenotype

nervous system phenotype

pigmentation phenotype

vision/eye phenotype

Genotype: Hps3coa/Hps3coaB6;B10-Hps3/J

pigmentation phenotype

vision/eye phenotype

References

Additional - Hps3coa related

Genotyping Protocols

Terms Of Use

Licensing Information

Hps3^coa

Allele Symbol: Hps3^coa

Genotype: Hps3^coa related

Genotype: Hps3^coa/Hps3^coa
involves: C57BL/10J

Genotype: Hps3^coa/Hps3^coa
B6;B10-Hps3/J

Additional - Hps3^coa related