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Strain Name:

JGBF/LeTyJ

Stock Number:

000072

Availability:

Repository-Cryopreserved


General Terms and Conditions

Genes & Alleles   Vps33a;   Vps33abf;   jg;


Product Information

Strain Details

Type Inbred Strain
Additional information on Inbred Strains.
Type JAX® GEMM® Strain - Spontaneous Mutation
Additional information on JAX® GEMM® Strains.
Specieslaboratory mouse
GenerationF36

Strain Description
Mice homozygous for the recessive buff (Vps33abf) mutation on a non-agouti (a/a) background have a lightened coat color that has been described as khaki. On an agouti background, Vps33abf homozygotes have dark ears, opaque eyes, and the belly is lighter in color than is the rest of the coat. Although no change in eye color is outwardly evident, electron microscopy shows fewer and smaller melanosomes than normal in the retinal pigment epithelium and choroid. These mutants have a platelet-storage pool defect evidenced by an increased bleeding time of 9.7 minutes on average, a reduction in the number of platelet dense granules, and slightly decreased collagen-mediated platelet aggregation, secretion of dense-granule ATP and secretion of seratonin. Hakansson and Lundin found increased activity of the lysosomal glycosidases beta- galactosidase, beta-glucuronidase, and N-acetyl-beta-hexosaminidase in kidney cell lysates. Suzuki et al. found no significant difference in kidney beta- galactosidase and beta-glucuronidase activity, no significant decrease in beta-glucuronidase secretion into the urine, but a 53% reduction in the secretion of beta-galactosidase into the urine. (Dickie, 1964; Davisson, 1977; Hakansson and Lundin, 1977; Suzuki et al., 2003.)

Mice homozygous for jg have shortened tails with a normal tapering tip. There is variation in expressivity. The tail is often kinked and other parts of the spine can also be affected. Testes are much smaller than normal and homozygous males are likely sterile. Ovaries are slightly smaller than normal and litter sizes from homozygous females are smaller than normal. Viability to wean age is reduced in homozygotes impacting males more than females. (Green, 1964.)

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.

Vps33abf/Vps33abf

        C57BL/6J
  • pigmentation phenotype
  • diluted coat color (MGI Ref ID J:13418)
    • nonagouti mice are khaki colored
    • eye color is not affected
  • renal/urinary system phenotype
  • abnormal kidney physiology (MGI Ref ID J:5799)
    • activity levels of beta-galactosidase, beta-glucuronidase and N-acetyl-beta-hexoseaminidase are higher than in heterozygous controls
  • skin/coat/nails phenotype
  • diluted coat color (MGI Ref ID J:13418)
    • nonagouti mice are khaki colored
    • eye color is not affected
  • homeostasis/metabolism phenotype
  • abnormal blood coagulation (MGI Ref ID J:88018)
    • average bleeding time is 6.8 minutes

jg/jg

        C3H/HeJ-jg
  • lethality-postnatal
  • *normal* lethality-postnatal (MGI Ref ID J:13421)
    • postnatal lethality (MGI Ref ID J:13421)
      • there is a deficiency of homozygotes, particularly males
  • limbs/digits/tail phenotype
  • abnormal skeleton extremities morphology (MGI Ref ID J:13421)
    • abnormal caudal vertebrae morphology (MGI Ref ID J:13421)
      • decreased caudal vertebrae number (MGI Ref ID J:13421)
        • the tail is tapered normally but shortened
  • kinked tail (MGI Ref ID J:13421)
  • reproductive system phenotype
  • abnormal female reproductive anatomy (MGI Ref ID J:13421)
    • abnormal ovary size (MGI Ref ID J:13421)
      • slightly smaller than normal for strain
  • abnormal fertility/fecundity (MGI Ref ID J:13421)
    • females have fewer litters than normal for the strain
    • abnormal litter size (MGI Ref ID J:13421)
      • litters are small
      • decreased litter size (MGI Ref ID J:13421)
    • male infertility (MGI Ref ID J:13421)
    • reduced fertility (MGI Ref ID J:13421)
      • reduced female fertility (MGI Ref ID J:13421)
  • abnormal male reproductive system physiology (MGI Ref ID J:13421)
    • male infertility (MGI Ref ID J:13421)
  • abnormal testis morphology (MGI Ref ID J:13421)
    • abnormal testis size (MGI Ref ID J:13421)
      • significantly smaller than normal for strain
      • small testis (MGI Ref ID J:13421)
  • skeleton phenotype
  • abnormal skeleton extremities morphology (MGI Ref ID J:13421)
    • abnormal caudal vertebrae morphology (MGI Ref ID J:13421)
      • decreased caudal vertebrae number (MGI Ref ID J:13421)
        • the tail is tapered normally but shortened
  • abnormal vertebrae development (MGI Ref ID J:13421)
    • found in some but not all mutants
  • endocrine/exocrine gland phenotype
  • abnormal ovary size (MGI Ref ID J:13421)
    • slightly smaller than normal for strain
  • abnormal testis morphology (MGI Ref ID J:13421)
    • abnormal testis size (MGI Ref ID J:13421)
      • significantly smaller than normal for strain
      • small testis (MGI Ref ID J:13421)

Gene & Allele Details

Allele Symbol Vps33abf
Allele Name buff
Common Name(s) bf;
Strain of OriginC57BL/6J
Gene Symbol and Name Vps33a, vacuolar protein sorting 33A (yeast)
Chromosome 5
Gene Common Name(s) 3830421M04Rik; AI503300; AW048546; AW554476; FLJ22395; FLJ23187; RIKEN cDNA 3830421M04 gene; bf; buff; expressed sequence AI503300; expressed sequence AW048546; expressed sequence AW554476; r-Vps33a;
Molecular Note The buff mutation arose spontaneously in the C57BL/6J strain. The mutation was identified as a T to G transversion that causes a missense substitution of glutamic acid for aspartic acid at codon 251. [MGI Ref ID J:81830]
 
Allele Symbol jg
Allele Name jagged tail
Strain of OriginC3H/HeJ

Colony Maintenance

Breeding & HusbandryHomozygous jg/jg usually dies at birth.

Related Strains

Strains carrying   Vps33abf allele
000520   C57BL/6J-Vps33abf/J
006938   C57BL/6J-Vps33abf/JLlp
000260   JGBF/LeJ
View Strains carrying   Vps33abf     (3 strains)

Strains carrying   jg allele
000260   JGBF/LeJ
View Strains carrying   jg     (1 strain)

Research Applications

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

Vps33abf related

Dermatology Research
Color and White Spotting Defects

jg related

Developmental Biology Research
Skeletal Defects

Reproductive Biology Research
Developmental Defects Affecting Gonads
Fertility Defects

References

Additional References

Price and Supply Information

Strain Name: JGBF/LeTyJ
Stock Number: 000072

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 of Strains Needing Progeny Testing.
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 untested males and two untested females (two pairs) will be recovered, 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 overall recovery time to approximately 25 weeks. However, all pups recovered will be sent.

Progeny testing is required to identify the genotype of mice of this strain, as a genotyping assay is not available. This type of testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. We can perform the progeny testing for you as a service or we can ship all recovered animals (at least two untested pairs) to you for progeny testing at your facility. If you perform the progeny testing, there is NO guarantee that a carrier will be identified. If we perform progeny testing as a service, additional breeding time will be required. In this case, when a male and female (one pair) are identified that carry the mutation, they and their offspring will be shipped. Delivery time for strains requiring progeny testing often exceeds 25 weeks and may take 12 months or more due to the difficulties in breeding some strains. The progeny testing cost is in addition to the recovery cost and is based on the number of boxes used and the time taken to produce the mice identified as carrying the mutation. Please note that identified 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. Please contact Customer Service for more information on the cost of progeny testing for a strain: Tel: 1-800-422-6423 or 1-207-288-5845.

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.

LicensingSee General Terms and Conditions below  

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.
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