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Strain Name:

B10.PA-Pldnpa H3e at/SnJ

Stock Number:

000477

Availability:

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General Terms and Conditions

Genes & Alleles   H3;   Pldn;   Pldnpa;   a;   at;   ;

Product Information

Strain Details

Type JAX® GEMM® Strain - Congenic
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Mutant Strain
Specieslaboratory mouse
Background Strain C57BL/10Sn
Donor Strain B10.PA-Pldnpa H3e at/Sn
GenerationN11F76p

Strain Description
This minor histocompatibility 3 (H3e) congenic strain is also carrying the closely linked pallid mutation (Pldnpa) as well as the black and tan allele of nonagouti also residing on Chromosome 2. Histocompatibility 3 is one of several loci isolated and identified by Dr. George Snell and co-workers. Histocompatibility gene differences were identified by generating congenic resistant strains and testing for resistance to transplantable tumors. Homozygous pallid mice have pink eyes, a diluted coat color and their viability is slightly reduced. Some homozygotes have slightly abnormal behavior, with abnormal postural responses and head tilting due to the absence of otoliths in the sacculus and utriculus in many but not all mutant mice. The effect of pallid on behavior and otolith morphology appears to be a result of manganese deficiency. Homozygotes display defective mucopolysaccharide synthesis in the otolith matrix and a slower rate of transport of manganese, L-dopa, and L-tryptophane in the brain. Homozygotes have elevated basal and testosterone-induced levels of the kidney lysosomal enzymes b-glucuronidase, b-galactosidase, and a-mannosidase, accompanied by lowered enzyme excretion in the urine. Pallid mice have a deficiency in serum a1-antitrypsin and have been proposed as a model of genetic a1-antitrypsin deficiency. Lung lesions similar to those seen in human emphysema are found in these mice, and are attributed, like human hereditary emphysema, to a decreased capacity to inhibit serum elastase although liver a1-antitrypsin activity is normal. Pallid mice have prolonged bleeding time due to a platelet storage pool deficiency (SPD) characterized by a normal platelet number but a deficiency in the number of platelet dense granules and in the serotonin, ATP, and ADP content of the granules. Two other mouse coat color mutants, muted (Mutedmu) and mocha (Ap3d1mh), present a similar concatenation of pigment, otolith, and platelet SPD abnormalities, which also occur in human Hermansky-Pudlak syndrome.

Related Disease (OMIM) Terms

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

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

Pldnpa/Pldnpa

        involves: wild-derived
  • skin/coat/nails phenotype
  • diluted coat color (MGI Ref ID J:13138)
    • pale agouti
  • vision/eye phenotype
  • reduced eye pigmentation (MGI Ref ID J:13138)
    • pink eyes
  • pigmentation phenotype
  • diluted coat color (MGI Ref ID J:13138)
    • pale agouti
  • reduced eye pigmentation (MGI Ref ID J:13138)
    • pink eyes

Pldnpa/Pldnpa

        B6.Cg-Pldnpa/J
  • life span-post-weaning/aging
  • premature death (MGI Ref ID J:53228)
    • survival beyond 16 months of age reduced to about 40%
  • pigmentation phenotype
  • abnormal melanosome morphology (MGI Ref ID J:80751)
    • immature melanosomes found in follicular melanocytes
    • increased numbers of multivesicular forms
    • striated forms more frequent as well but are usually misshapen and with irregular pigment
    • do not increase in size with maturation
  • diluted coat color (MGI Ref ID J:99881)
    • display a generalized pigmented dilution
  • respiratory system phenotype
  • abnormal lung morphology (MGI Ref ID J:53228)
    • "honeycomb" effect on lung architecture
    • abnormal respiratory alveoli morphology (MGI Ref ID J:88021)
      • by 16 months of age, enlarged airspaces and distruction of alveolar tissue
  • abnormal respiratory mechanics (MGI Ref ID J:88021)
    • lung reactance values decrease with age relative to controls
  • homeostasis/metabolism phenotype
  • abnormal urine enzyme level (MGI Ref ID J:6219)
    • reduced secretion of lysosomal enzymes into the urine of testosterone treated mice
  • decreased platelet serotonin level (MGI Ref ID J:7327)
    • platetelet serotonin levels less than 1% of normal
  • increased bleeding time (MGI Ref ID J:7327)
    • greater than 15 minutes
  • platelet storage pool deficiency (MGI Ref ID J:7327)
    • platelet ATP about half normal
    • platelet ADP a third to a half normal
    • reduced serotonin release after thrombin activation
    • lysosomal enzyme secretion after thrombin activation about half normal
  • renal/urinary system phenotype
  • abnormal kidney physiology (MGI Ref ID J:6219)
    • kidney beta-glucuronidase levels increased 2.5X
    • kidney levels of beta-galactosidase and alpha-mannosidase increased
    • increased rate of lysosomal enzyme synthesis in kidneys
  • abnormal urine enzyme level (MGI Ref ID J:6219)
    • reduced secretion of lysosomal enzymes into the urine of testosterone treated mice
  • behavior/neurological phenotype
  • ataxia (MGI Ref ID J:5215)
    • exaggerated ataxia in some mice after a swim test
  • impaired balance (MGI Ref ID J:5215)
    • sometimes seen to roll over at the end of a swim test
    • head tilt (MGI Ref ID J:5215)
      • seen in about 25% of homozygotes
  • impaired swimming (MGI Ref ID J:89392)
    • erratic swimming pattern in some mice with head tilt
    • 55/99 mice unable to swim - related to absence of normal otoliths
  • tonic seizures (MGI Ref ID J:5215)
    • momentary, in mice displaying head tilt when first placed in water for a swim test
  • hearing/vestibular/ear phenotype
  • abnormal linear vestibular evoked potential (MGI Ref ID J:89392)
    • variable defects in latencies, amplitudes and thresholds of VESPs, dependent on amounts of otoconia present
    • mice with absent otoconia show absent vestibular compound action potentials
  • abnormal otolith morphology (MGI Ref ID J:89392)
    • variable presence of otoliths - from normal to complete absence
    • otolith development improves by maternal feeding with increased levels of manganese during early gestation
  • head tilt (MGI Ref ID J:5215)
    • seen in about 25% of homozygotes
  • hematopoietic system phenotype
  • abnormal platelet dense granule number (MGI Ref ID J:7327)
    • fewer dense granules per platelet
  • decreased platelet serotonin level (MGI Ref ID J:7327)
    • platetelet serotonin levels less than 1% of normal
  • platelet storage pool deficiency (MGI Ref ID J:7327)
    • platelet ATP about half normal
    • platelet ADP a third to a half normal
    • reduced serotonin release after thrombin activation
    • lysosomal enzyme secretion after thrombin activation about half normal
  • nervous system phenotype
  • tonic seizures (MGI Ref ID J:5215)
    • momentary, in mice displaying head tilt when first placed in water for a swim test
  • 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
  • skin/coat/nails phenotype
  • *normal* skin/coat/nails phenotype (MGI Ref ID J:68448)
    • electron microscopy of the skin shows regular collagen bundles and no excess collagen deposition
    • diluted coat color (MGI Ref ID J:99881)
      • display a generalized pigmented dilution

Gene & Allele Details

Allele Symbol Pldnpa
Allele Name pallid
Common Name(s) pa;
Strain of Originwild
Gene Symbol and Name Pldn, pallidin
Chromosome 2
Gene Common Name(s) BLOC-1 subunit; MGC114534; PA; PALLID; pa; pallid;
Molecular Note The C to T substitution at nucleotide 787 introduces a premature stop codon in pallid mice. Through Northern analysis, a single mRNA of about 2.5kb was found in reduced levels compared to wild-type. [MGI Ref ID J:2185] [MGI Ref ID J:64907]
 
Allele Symbol at
Allele Name black and tan
Strain of OriginEnglish fancy stock
Gene Symbol and Name a, nonagouti
Chromosome 2
Gene Common Name(s) AGSW; AGTI; AGTIL; ASP; As; MGC126092; MGC126093; SHEP9; agouti; agouti signal protein; agouti suppressor;
General Note The black and tan mutation was found by Dunn (J:15011) in a strain obtained from an English fancier. The back is black and the belly cream or yellow. Effects are recessive to A on back but dominant on belly. A/at mice resemble Aw/-.Dermal--epidermal recombination experiments have shown that the regional differences in color are determined by gene action in the dermis (J:5672).This allele is recessive to A and Aw on the dorsum and dominant to all agouti alleles on the ventrum except for Aw from which it is indistinguishable (J:78801) .
Molecular Note This allele comprises a 6 kb insertion containing a retrovirus-like transposable element VL30 and a single 526 bp repeat into the first intron of the agouti gene at the same position as for alleles a and Aw. [MGI Ref ID J:16984]
Gene Symbol and Name H3, histocompatibility 3
Chromosome 2
Gene Common Name(s) H-3;

Control Information

  Control
   000666 C57BL/10SnJ
 
  Considerations for Choosing Controls

Colony Maintenance

Diet Information LabDiet® 5K54

Related Strains

Strains carrying   Pldnpa allele
000305   B6.Cg-Fbn1Tsk +/+ Pldnpa/J
000024   B6.Cg-Pldnpa/J
006931   B6.Cg-Pldnpa/JLlp
View Strains carrying   Pldnpa     (3 strains)

Strains carrying   at allele
000419   B10.UW-H3b we Pax1un at/SnJ
000065   B6C3Fe a/a-we Pax1un at/J
000262   LS/LeJ
View Strains carrying   at     (3 strains)

Additional Web Information

Congenic Nomenclature

Research Applications

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

Immunology and Inflammation Research
CD Antigens, Antigen Receptors, and Histocompatibility Markers

Pldnpa related

Dermatology Research
Color and White Spotting Defects

Hematological Research
Platelet Defects (platelet storage pool deficiency)

Internal/Organ Research
Kidney Defects (lysosomal enzyme abnormalities)
Lung Defects (emphysema)

Neurobiology Research
Vestibular and Hearing Defects

Sensorineural Research
Vestibular and Hearing Defects

at related

Dermatology Research
Color and White Spotting Defects

References

Additional References

Price and Supply Information

Strain Name: B10.PA-Pldnpa H3e at/SnJ
Stock Number: 000477

Price Details

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Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.
Supply Notes Cryorecovery - Standard.
The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services: Tel: 1-800-422-6423 or 1-207-288-5845; Email: jaxservices@jax.org.
Genomic DNA is available for this strain from the Mouse DNA Resource.

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Control InformationView Control Information in Strain Details.

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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.
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