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B6Pin.C3-Ap3b1pe/J
Stock No: 003215
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Overview

The homozygous pearl phenotype includes hypopigmentation of hair and eyes, prolonged bleeding times associated with platelet storage pool deficiency (SDP) and lysosomal accumulation of ceroid pigment. This combination of abnormalities is characteristic of a human hereditary disease, Hermansky-Pudlak syndrome. Pearl mice also exhibit reduced sensitivity in the dark-adapted state, altered somatostatin binding to the retina, and an increased rate of renal apoptosis, making them a potential model for human congenital stationary night blindness.

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Genetic overview

Genetic Background Generation
F?+26
(2020-04-23 00:00:00)

Ap3b1pe

Allele Type Gene Symbol Gene Name
Spontaneous Ap3b1 adaptor-related protein complex 3, beta 1 subunit
View Genetics

Research Applications

  • Dermatology Research
  • Hematological Research
  • Internal/Organ Research
View All Research Applications

Base Price

Starting at:

$155.44 Domestic price for female
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Details

Detailed Description

The homozygous pearl phenotype includes hypopigmentation of hair and eyes, prolonged bleeding times associated with platelet storage pool deficiency (SDP) and lysosomal accumulation of ceroid pigment. This combination of abnormalities is characteristic of a human hereditary disease, Hermansky-Pudlak syndrome. Pearl mice also exhibit reduced sensitivity in the dark-adapted state, altered somatostatin binding to the retina, and an increased rate of renal apoptosis, making them a potential model for human congenital stationary night blindness.

Development

The pearl mutation occurred spontaneously at the eighth generation of brother-sister inbreeding of strain C3H/He at Oak Ridge National Laboratory. It was backcrossed onto C57BL/6JPin by L.H. Pinto, at Northwestern University. The C3H-derived segment of Chr 13 extends at least through Srd5a proximally and D13Mit36 distally.

Control Suggestions

  • 000664 C57BL/6J

Additional Information

  • Considerations for Choosing Controls

Genetics

Ap3b1pe

Allele Symbol: Ap3b1pe

Allele Name pearl
Allele Type Spontaneous
Allele Synonym(s) Ap3b1pearl; pe
Gene Symbol and Name Ap3b1, adaptor-related protein complex 3, beta 1 subunit
Gene Synonym(s)
Strain of Origin C3H/He
Chromosome 13
Molecular Note The molecular mutation consists of a 793 bp tandem duplication that alters the reading frame and truncates the protein 130 amino acids from the C terminus.

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 2

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: Ap3b1pe related

  • Dermatology Research
    • Color and White Spotting Defects
  • Hematological Research
    • Platelet Defects
      • platelet storage pool deficiency
  • Internal/Organ Research
    • Kidney Defects
      • lysosomal enzyme abnormalities

Mammalian Phenotype Terms by Genotype

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

Genotype: Ap3b1pe/Ap3b1pe
B6.C3-Ap3b1/J

behavior/neurological phenotype

  • abnormal eye movement
    • absence of optokinetic nystagmus
    • (MGI Ref ID J:12089)

homeostasis/metabolism phenotype

  • abnormal platelet activation
    • stimulation with a low dose of thrombin elicits a mutated release of lysosomal enzymes from platelets
    • (MGI Ref ID J:221384)
    • agonist-dependent lysosome release in platelets is impaired
    • (MGI Ref ID J:221384)
    • platelets show impaired alpha granule content release in response to low-dose thrombin stimulation
    • (MGI Ref ID J:221384)
  • decreased platelet serotonin level
    • less than 3% of normal platelet serotonin levels
    • (MGI Ref ID J:7327)
  • abnormal enzyme/coenzyme activity
    • the activity of beta-glucuronidase, a lysosomal enzyme, is reduced by 28% in platelets
    • (MGI Ref ID J:221384)
  • decreased platelet aggregation
    • mice exhibit abnormal thrombus formation during laser-induced blood vessel damage, with total platelet accumulation severely attenuated by nearly 80%
    • (MGI Ref ID J:221384)
  • increased bleeding time
    • bleed time averaging over 15 minutes after tail nick is much greater than the 3.8 minutes for C57BL/6J controls
    • (MGI Ref ID J:7327)

cardiovascular system phenotype

  • lung hemorrhage
    • in about 3/8 of homozygotes surviving more than 2 years
    • (MGI Ref ID J:53228)

mortality/aging

  • premature death
    • about 40% survive less than 2 years
    • (MGI Ref ID J:53228)

nervous system phenotype

  • abnormal midbrain roof plate morphology
    • denser optic projections to the contralateral anterior and posterior olivary pretectal nuclei
    • (MGI Ref ID J:29747)
    • accessory input to the contralateral dorsal terminal nucleus is substantially reduced
    • (MGI Ref ID J:29747)
    • projections to the rostral ipsilateral anterior olivary pretectal nucleus are reduced in density
    • (MGI Ref ID J:29747)
  • decreased platelet serotonin level
    • less than 3% of normal platelet serotonin levels
    • (MGI Ref ID J:7327)
  • abnormal superior colliculus morphology
    • reduced ipsilateral projections to the superior colliculus
    • (MGI Ref ID J:12089)
  • abnormal forebrain morphology
      (MGI Ref ID J:12089)
  • abnormal lateral geniculate nucleus morphology
    • reduced ipsilateral optic projections
    • (MGI Ref ID J:12089)
  • abnormal optic tract morphology
    • inferior fasciculus of the accessory optic tract is significantly reduced
    • (MGI Ref ID J:29747)
  • abnormal visual cortex morphology
    • reduced ipsilateral projections to the visual cortex
    • (MGI Ref ID J:12089)

renal/urinary system phenotype

  • accumulation of giant lysosomes in kidney/renal tubule cells
    • transmission electron microscopy shows numerous enlarged lysosomes in the kidney proximal tubule cells
    • (MGI Ref ID J:152219)

respiratory system phenotype

  • abnormal pulmonary alveolus morphology
    • lungs show a moderately honeycombed structure
    • (MGI Ref ID J:53228)
  • lung hemorrhage
    • in about 3/8 of homozygotes surviving more than 2 years
    • (MGI Ref ID J:53228)
  • overexpanded pulmonary alveoli
    • moderate airspace enlargement
    • (MGI Ref ID J:53228)

vision/eye phenotype

  • abnormal eye movement
    • absence of optokinetic nystagmus
    • (MGI Ref ID J:12089)
  • abnormal vision
    • visual sensitivity is diminished on dim backgrounds but sensitivity is normal on bright backgrounds
    • (MGI Ref ID J:12089)

cellular phenotype

  • decreased lysosomal enzyme secretion
    • thrombin stimulation of platelets results in slightly more than half the normal levels of secretion of beta-glucuronidase and beta-galactosidase
    • (MGI Ref ID J:7327)
  • accumulation of giant lysosomes in kidney/renal tubule cells
    • transmission electron microscopy shows numerous enlarged lysosomes in the kidney proximal tubule cells
    • (MGI Ref ID J:152219)
  • abnormal lysosome morphology
    • in primary macrophages and melanocyte derived cell lines of pearl mutants immunohistochemistry staining the delta subunit of the AP3 complex reveals a weak, diffuse cytoplasmic staining rather than the normal punctate pattern
    • (MGI Ref ID J:152219)

hematopoietic system phenotype

  • abnormal platelet dense granule morphology
    • transmission electron microscopy of platelets shows that the dense granules have very little contents, although no other subcellular platelet abnormalities are found
    • (MGI Ref ID J:152219)
  • decreased platelet serotonin level
    • less than 3% of normal platelet serotonin levels
    • (MGI Ref ID J:7327)
  • abnormal platelet activation
    • stimulation with a low dose of thrombin elicits a mutated release of lysosomal enzymes from platelets
    • (MGI Ref ID J:221384)
    • platelets show impaired alpha granule content release in response to low-dose thrombin stimulation
    • (MGI Ref ID J:221384)
    • agonist-dependent lysosome release in platelets is impaired
    • (MGI Ref ID J:221384)
  • decreased platelet ADP level
    • platelet ADP levels are much lower than in C57BL/6J controls
    • (MGI Ref ID J:7327)
  • decreased platelet ATP level
    • platelet ATP levels are much lower than in C57BL/6J controls
    • (MGI Ref ID J:7327)
  • decreased platelet aggregation
    • mice exhibit abnormal thrombus formation during laser-induced blood vessel damage, with total platelet accumulation severely attenuated by nearly 80%
    • (MGI Ref ID J:221384)
  • decreased platelet dense granule number
    • vastly reduced number of platelet dense granules
    • (MGI Ref ID J:7327)

Genotype: Ap3b1pe/Ap3b1pe
involves: C3H/He

behavior/neurological phenotype

  • abnormal maternal nurturing
    • females that survive pregnancy and lactation make poor mothers
    • (MGI Ref ID J:15331)

integument phenotype

  • diluted coat color
    • greatest at the base of hairs but affecting the whole hair
    • (MGI Ref ID J:15331)
    • the characteristic yellowish mask around the eyes is diluted to near-white
    • (MGI Ref ID J:15331)
    • snout, ears, feet and tail particularly lighter than controls
    • (MGI Ref ID J:15331)
  • abnormal coat/hair pigmentation
    • about 6% of homozygotes have normal color patches
    • (MGI Ref ID J:6739)
    • if more than 5% of coat is normally pigmented then germinal reversion is also seen
    • (MGI Ref ID J:6739)(MGI Ref ID J:15331)
  • white spotting
    • white "mask" around eyes
    • (MGI Ref ID J:15331)
    • a long, narrow mid ventral white streak is occasionally observed
    • (MGI Ref ID J:15331)

mortality/aging

  • neonatal lethality, incomplete penetrance
    • smaller litter sizes at birth
    • (MGI Ref ID J:15331)
  • postnatal lethality
    • reduced litter sizes at weaning
    • (MGI Ref ID J:15331)
  • pregnancy-related premature death
    • females tend to die during pregnancy and while nursing
    • (MGI Ref ID J:15331)

nervous system phenotype

  • decreased platelet serotonin level
    • much reduced levels of serotonin in platelets and in each large dense granule
    • (MGI Ref ID J:7327)

pigmentation phenotype

  • abnormal coat/hair pigmentation
    • about 6% of homozygotes have normal color patches
    • (MGI Ref ID J:6739)
    • if more than 5% of coat is normally pigmented then germinal reversion is also seen
    • (MGI Ref ID J:6739)(MGI Ref ID J:15331)
  • abnormal melanosome morphology
    • immature melanosome forms (type II/III) accumulate to a certain degree but fully mature forms are also observed
    • (MGI Ref ID J:80751)
    • increase in membrane blebbing on type IV melanosomes, suggesting abnormal vesicular trafficking
    • (MGI Ref ID J:80751)
  • decreased eye pigmentation
    • at birth but normal in adults
    • (MGI Ref ID J:15331)
  • diluted coat color
    • snout, ears, feet and tail particularly lighter than controls
    • (MGI Ref ID J:15331)
    • greatest at the base of hairs but affecting the whole hair
    • (MGI Ref ID J:15331)
    • the characteristic yellowish mask around the eyes is diluted to near-white
    • (MGI Ref ID J:15331)
  • white spotting
    • a long, narrow mid ventral white streak is occasionally observed
    • (MGI Ref ID J:15331)
    • white "mask" around eyes
    • (MGI Ref ID J:15331)

reproductive system phenotype

  • female infertility
    • about 1 in 7 females is sterile
    • (MGI Ref ID J:15331)

vision/eye phenotype

  • decreased eye pigmentation
    • at birth but normal in adults
    • (MGI Ref ID J:15331)

hematopoietic system phenotype

  • decreased platelet dense granule number
    • Normal - platelet numbers are normal
    • (MGI Ref ID J:7327)
    • decreased numbers of dense granules/platelet
    • (MGI Ref ID J:7327)
  • decreased platelet serotonin level
    • much reduced levels of serotonin in platelets and in each large dense granule
    • (MGI Ref ID J:7327)
  • abnormal platelet dense granule physiology
    • less secretion of dense granule contents and of lysozymal enzymes in comparison to controls (1/2 normal in response to thrombin)
    • (MGI Ref ID J:7327)

homeostasis/metabolism phenotype

  • abnormal platelet dense granule physiology
    • less secretion of dense granule contents and of lysozymal enzymes in comparison to controls (1/2 normal in response to thrombin)
    • (MGI Ref ID J:7327)
  • increased bleeding time
      (MGI Ref ID J:7327)
  • decreased platelet serotonin level
    • much reduced levels of serotonin in platelets and in each large dense granule
    • (MGI Ref ID J:7327)
  • abnormal blood coagulation
      (MGI Ref ID J:7327)

Genotype: Ap3b1pe/Ap3b1pe
involves: C3H/He * C57BL/6J

homeostasis/metabolism phenotype

  • abnormal enzyme/coenzyme level
    • increased kidney synthesis of glucuronidase
    • (MGI Ref ID J:6219)
    • kidney glucuronidase levels elevated 2.5X over controls
    • (MGI Ref ID J:6219)
    • decreased secretion of beta-galactosidase but not other lysosome enzymes
    • (MGI Ref ID J:6219)
    • kidney galactosidase and mannosidase levels are also elevated
    • (MGI Ref ID J:6219)

renal/urinary system phenotype

  • abnormal proximal convoluted tubule morphology
    • increased hypertrophy of proximal tubule cells after testosterone treatment as compared to controls
    • (MGI Ref ID J:6219)

References

Additional References

  • Feng L; Rigatti BW; Novak EK; Gorin MB; Swank RT. 2000. Genomic structure of the mouse ap3b1 gene in normal and pearl mice Genomics 69(3):370-9PubMed: 11056055MGI: J:65643

Additional - Ap3b1pe related

Technical Support

CONTACT TECHNICAL SUPPORT
  • Genotyping Protocols

    • Genotyping resources and troubleshooting
  • Mating System

    • Homozygote x Homozygote
  • Appearance

    • pearl (grey)
      Related Genotype: a/a Ap3b1pe/Ap3b1pe
  • Citation

    When using the B6Pin.C3-Ap3b1pe/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #003215 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

MGL277 (Low)

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The Jackson Laboratory's Genotype Promise

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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