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Strain Name:

B6.C3Fe-Hps1ep/JLlp

Stock Number:

006930

Availability:

Research Strain

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General Terms and Conditions

Genes & Alleles   Hps1;   Hps1ep;

Product Information

Strain Details

Type JAX® GEMM® Strain - Congenic
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Mutant Strain
Type JAX® GEMM® Strain - Spontaneous Mutation
Specieslaboratory mouse
GenerationN6+2F22
Related Disease (OMIM) Terms

Hermansky-Pudlak Syndrome; HPS
Mammalian Phenotype Terms assigned by genotype

Hps1ep/Hps1ep

        B6.C3Fe-Hps1ep/J
  • cellular phenotype
  • abnormal lysosome physiology (MGI Ref ID J:6801)
    • significant increase in lysosomal enzyme activity of beta-galactosidase and beta-glucuronidase, and to a lesser extent N-acetyl-beta-hexoseaminidase, in kidney extracts
  • immune system phenotype
  • abnormal NK cell physiology (MGI Ref ID J:6801)
    • lower natural killer cell activity
  • pigmentation phenotype
  • abnormal coat color (MGI Ref ID J:99881)
    • display a reduction in pigmentation of the tail and ears
  • skin/coat/nails phenotype
  • abnormal coat color (MGI Ref ID J:99881)
    • display a reduction in pigmentation of the tail and ears

Hps1ep/Hps1ep

        involves: C3HeB/FeJ
  • pigmentation phenotype
  • abnormal melanosome morphology (MGI Ref ID J:80751)
    • marked increase in immature forms of melanosomes, with a shift of distribution of type IV melanosomes towards more elliptical forms

The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.

Hps1ep/Hps1ep

        either: C3HeB/FeJ or (involves: C3HeB/FeJ * C57BL/6J)
  • vision/eye phenotype
  • abnormal eye pigmentation (MGI Ref ID J:5032)
    • reduced eye pigment in the first 1-2 days after birth eyes darken with age reduced eye pigment in the first 1-2 days after birth
    • eyes darken with age
  • skin/coat/nails phenotype
  • diluted coat color (MGI Ref ID J:5032)
    • paler coat color as juveniles but becoming darker in adults
    • also light colored ears and tail
  • pigmentation phenotype
  • abnormal eye pigmentation (MGI Ref ID J:5032)
    • reduced eye pigment in the first 1-2 days after birth eyes darken with age reduced eye pigment in the first 1-2 days after birth
    • eyes darken with age
  • abnormal melanosome morphology (MGI Ref ID J:5032)
    • smaller pigment granules reported on this mixed genetic background
  • diluted coat color (MGI Ref ID J:5032)
    • paler coat color as juveniles but becoming darker in adults
    • also light colored ears and tail

Hps1ep/Hps1ep

        involves: C3HeB/FeJ * C57BL/6J
  • vision/eye phenotype
  • abnormal choroid pigmentation (MGI Ref ID J:42484)
    • abnormally large melanosomes in choroidal melanocytes
  • abnormal ciliary body pigmentation (MGI Ref ID J:6064)
    • reduced
  • abnormal retina morphology (MGI Ref ID J:6064)
    • reduced pigment in the retina and decreasing in a gradient from the periphery toward the attachment of the optic nerve
  • respiratory system phenotype
  • abnormal lung epithelium morphology (MGI Ref ID J:85431)
    • type II epithelial cells with enlarge lamellar bodies
  • hematopoietic system phenotype
  • abnormal platelet physiology (MGI Ref ID J:42484)
    • abnormal platelet aggregation, lower rate
    • decreased ATP release
    • reduced secretion of stored serotonin after thrombin stimulation
    • increased secretion of lysosomal enzymes
    • decreased platelet serotonin level (MGI Ref ID J:7327)
      • 4.5 fold reduction in platelet serotonin
  • abnormal platelet volume (MGI Ref ID J:42484)
    • very few dense bodies in platelets
  • platelet storage pool deficiency (MGI Ref ID J:7327)
    • 4.5 fold reduction in platelet serotonin
    • ATP levels reduced 1.4-2X
    • ADP levels reduced 2.6-6X
    • ATP/ADP ratio increased
  • homeostasis/metabolism phenotype
  • abnormal circulating enzyme level (MGI Ref ID J:6219)
    • serum levels of beta glucuronidase and beta galactosidase elevated
  • abnormal platelet physiology (MGI Ref ID J:42484)
    • abnormal platelet aggregation, lower rate
    • decreased ATP release
    • reduced secretion of stored serotonin after thrombin stimulation
    • increased secretion of lysosomal enzymes
    • decreased platelet serotonin level (MGI Ref ID J:7327)
      • 4.5 fold reduction in platelet serotonin
  • increased bleeding time (MGI Ref ID J:7327)
  • platelet storage pool deficiency (MGI Ref ID J:7327)
    • 4.5 fold reduction in platelet serotonin
    • ATP levels reduced 1.4-2X
    • ADP levels reduced 2.6-6X
    • ATP/ADP ratio increased
  • renal/urinary system phenotype
  • abnormal kidney physiology (MGI Ref ID J:6219)
    • beta glucuronidase, beta galactosidase, and alpha mannosidase elevated in kidneys after testosterone treatment
    • abnormal kidney excretion (MGI Ref ID J:6219)
      • secretion of lysosomal enzymes in urine is decreased
  • enlarged kidney (MGI Ref ID J:6219)
    • hypertrophy as a result of testosterone treatment
  • immune system phenotype
  • abnormal macrophage physiology (MGI Ref ID J:7869)
    • several fold decrease in secretion of mature beta galactosidase and beta glucuronidase in the presence of ammonium chloride
    • proenzymes are secreted however
  • pigmentation phenotype
  • abnormal choroid pigmentation (MGI Ref ID J:42484)
    • abnormally large melanosomes in choroidal melanocytes
  • abnormal ciliary body pigmentation (MGI Ref ID J:6064)
    • reduced
  • abnormal melanosome morphology (MGI Ref ID J:42484)
    • melanosomes reported to be enlarged in cultured skin melanocytes on this genetic background

Gene & Allele Details

Allele Symbol Hps1ep
Allele Name pale ear
Common Name(s) ep;
Strain of OriginC3HeB/FeJ
Gene Symbol and Name Hps1, Hermansky-Pudlak syndrome 1 homolog (human)
Chromosome 19
Gene Common Name(s) 6030422N11Rik; BB405864; HPS; MGC5277; RIKEN cDNA 6030422N11 gene; ep; expressed sequence BB405864; pale ear;
General Note Genbank ID for mutant allele: AF003867
Molecular Note The underlying mutation responsible for the phenotype in the pale ear mouse was identified as an insertion of an intracisternal A particle in a protein coding- 3' exon of the Hps1 gene. Northern analysis demonstrated qualitative differences in mRNA between wild type and homozygous mutant animals. [MGI Ref ID J:42484]

Control Information

  Control
   Heterozygote from the colony
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   Hps1ep allele
000050   B6.C3Fe-H51 Hps1ep /ByJ
000525   B6.C3Fe-Hps1ep/J
000278   B6C3Fe a/a-Papss2bm Hps1ep Hps6ru/J
View Strains carrying   Hps1ep     (3 strains)

Research Applications

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

Hps1ep related

Dermatology Research
Color and White Spotting Defects

Hematological Research
Platelet Defects (platelet storage pool deficiency)

Internal/Organ Research
Kidney Defects (lysosomal enzyme abnormalities)

References

Additional References

Price and Supply Information

Strain Name: B6.C3Fe-Hps1ep/JLlp
Stock Number: 006930

Price Details

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Supply Details

Standard SupplyResearch Strain. Availability determined by The Jackson Laboratory scientist holding the strain.
LicensingSee General Terms and Conditions below  
Control InformationView Control Information in Strain Details.

General Terms and Conditions

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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.
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