Go to JAX® Mice Query Form
Strain Name: |
B6.C3Fe-Hps1ep/JLlp |
Stock Number: |
006930 |
Availability:
| Research Strain |
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 |
| Species | laboratory mouse |
| Generation | N6+2F22
|
|
|
Related Disease (OMIM) Terms |
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)
- 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)
- 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 Origin | C3HeB/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
Related Strains
Strains carrying Hps1ep allele
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
IMPORTANT NOTE: Prices are based on shipping destination.
To view prices, select your shipping destination.
*NO Shipping Destination selected!
Supply Details
| Standard Supply | Research Strain. Availability determined by The Jackson Laboratory scientist holding the strain. |
| Licensing | See General Terms and Conditions below
|
| Control Information | View Control Information in Strain Details.
|
|---|
General Terms and Conditions
View
JAX® Mice & Services Conditions of Use.
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.
Ordering and Purchasing Information
Purchasing Information
JAX® Mice Orders
Surgical Services
Contact Information
Orders & Technical Support
Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
Technical Support Email Form
Go to JAX® Mice Query Form