Strain Name:

BXD32/TyJ-Galctwi-5J/J

Stock Number:

003613

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Availability:

Cryopreserved - Ready for recovery

Other products are available, see Purchasing Information for Cryopreserved Embryos

Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Type Mutant Strain; Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Type Recombinant Inbred (RI);
Additional information on Recombinant Inbred Mice.
Visit our online Nomenclature tutorial.
Specieslaboratory mouse

Description
The twitcher 5 Jackson homozygotes on this BXD32/TyJ background have a much earlier onset than the original twitcher mutation assessed on a mixed B6;CE background. A moderate tremor and smaller body size can be detected by 14 to 16 days of age, most homozygotes die by 21 days of age, and the remainder die by 30 days of age.

Development
The twitcher 5 Jackson mutation arose spontaneously in the BXD32/TyJ recombinant inbred strain at The Jackson Laboratory in 1995, and has been maintained on this background by inbreeding.

Control Information

  Control
   Heterozygote from the colony
 
  Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Galc
000978   B10.A/(5R)SgSn-Galctwi-2J/J
000845   B6.CE-Galctwi/J
View Strains carrying other alleles of Galc     (2 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Krabbe Disease   (GALC)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Galctwi-5J/Galctwi-5J

        BXD32/TyJ-Galctwi-5J/J
  • mortality/aging
  • partial postnatal lethality
    • most homozygotes die by 21 days of age   (MGI Ref ID J:139715)
  • premature death
    • median survival is 23.5 days   (MGI Ref ID J:199132)
  • nervous system phenotype
  • abnormal axon morphology
    • abnormal axons in the corpus callosum and spinal cord without evidence of demyelinating process in the central nervous system   (MGI Ref ID J:199132)
    • severe axonal loss in the peripheral nervous system   (MGI Ref ID J:199132)
  • abnormal corpus callosum morphology
    • with a small increase in unmyelinated medium-caliber axons and lipid inclusions   (MGI Ref ID J:199132)
  • abnormal spinal cord morphology
    • early signs of axonal loss, degenerating axons surrounded by compact myelin and lipid inclusions   (MGI Ref ID J:199132)
  • demyelination
    • deficiency of myelin is found as early as 3 weeks of age   (MGI Ref ID J:139715)
    • in the peripheral nervous system with macrophage accumulation   (MGI Ref ID J:199132)
    • however, myelination is normal in the central nervous system   (MGI Ref ID J:199132)
  • gliosis
    • extensive in the forebrain and brainstem by 3 weeks   (MGI Ref ID J:199132)
    • astrocytosis
      • astrocytosis in the forebrain (with globoid cell accumulation) and spinal cord at P15   (MGI Ref ID J:199132)
      • reactive astrocytes within the pyramidal tracts, cuneate fasciculus and dorsal white matter of the spinal cord, especially prominent in the dorsal root entry and ventral root exit zones   (MGI Ref ID J:199132)
  • growth/size/body phenotype
  • decreased body size
    • evident by 14-16 days of age   (MGI Ref ID J:139715)
    • after 2 weeks of age   (MGI Ref ID J:199132)
    • cachexia
      • clinical weakness and wasting are found after the tremor presents   (MGI Ref ID J:139715)
    • slow postnatal weight gain
      • stunted growth   (MGI Ref ID J:199132)
  • behavior/neurological phenotype
  • tremors
    • moderate tremor can be discerned by 14 to 16 days of age   (MGI Ref ID J:139715)
    • generalized   (MGI Ref ID J:199132)
  • weakness   (MGI Ref ID J:199132)
  • vision/eye phenotype
  • *normal* vision/eye phenotype
    • ophthalmoscopic examination of two homozygotes at 25 days of age shows normal eyes   (MGI Ref ID J:139715)
  • hematopoietic system phenotype
  • abnormal leukocyte morphology
    • globoid cell accumulation in the forebrain at P15   (MGI Ref ID J:199132)
  • immune system phenotype
  • abnormal leukocyte morphology
    • globoid cell accumulation in the forebrain at P15   (MGI Ref ID J:199132)
View Research Applications

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

Galctwi-5J related

Neurobiology Research
Myelination Defects
Tremor Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Galctwi-5J
Allele Name twitcher 5 Jackson
Allele Type Spontaneous
Strain of OriginBXD32/TyJ
Gene Symbol and Name Galc, galactosylceramidase
Chromosome 12
Gene Common Name(s) 2310068B06Rik; A930008M05Rik; AW212969; AW413532; Gacy; RIKEN cDNA 2310068B06 gene; RIKEN cDNA A930008M05 gene; expressed sequence AW212969; expressed sequence AW413532; galactocerebrosidase; twi; twitcher;
Molecular Note A spontaneous a G to A substitution in exon 4 results in the amino acid substitution of lysine for glutamic acid at position 130 (E130K). This mutation results in a loss of enzymatic activity. [MGI Ref ID J:199132]

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Galctwi-5J related

Karst SY; Ward-Bailey PF; Samples R; Johnson KR; Donahue LR; Davisson MT. 2008. Twitcher 5 Jackson; a new remutation in the Galc gene MGI Direct Data Submission :.  [MGI Ref ID J:139715]

Plati T; Visigalli I; Capotondo A; Buono M; Naldini L; Cosma MP; Biffi A. 2009. Development and maturation of invariant NKT cells in the presence of lysosomal engulfment. Eur J Immunol 39(10):2748-54. [PubMed: 19637231]  [MGI Ref ID J:153255]

Potter GB; Santos M; Davisson MT; Rowitch DH; Marks DL; Bongarzone ER; Petryniak MA. 2013. Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease. Hum Mol Genet 22(17):3397-414. [PubMed: 23620143]  [MGI Ref ID J:199132]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2525.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Frozen Products

Price (US dollars $)
Frozen Embryo $1650.00

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryopreserved Embryos
    Available to most shipping destinations1
    This strain is also available as cryopreserved embryos2. Orders for cryopreserved embryos may be placed with our Customer Service Department. Experienced technicians at The Jackson Laboratory have recovered frozen embryos of this strain successfully. We will provide you enough embryos to perform two embryo transfers. The Jackson Laboratory does not guarantee successful recovery at your facility. For complete information on purchasing embryos, please visit our Cryopreserved Embryos web page.

    1 Shipments cannot be made to Australia due to Australian government import restrictions.
    2 Embryos for most strains are cryopreserved at the two cell stage while some strains are cryopreserved at the eight cell stage. If this information is important to you, please contact Customer Service.
  • Cryorecovery of Strains Needing Progeny Testing
    At least two untested males and two untested females (two pairs) will be recovered (eight or more mice is typical). The total number of animals provided, their gender and genotype will vary. Untested animals typically are available to ship between 10 and 14 weeks from the date of your order. If the first recovery attempt is unsuccessful, a second recovery will be done, extending the overall recovery time to approximately 25 weeks. 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 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 (from any location). The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
    Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3283.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Frozen Products

Price (US dollars $)
Frozen Embryo $2145.00

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryopreserved Embryos
    Available to most shipping destinations1
    This strain is also available as cryopreserved embryos2. Orders for cryopreserved embryos may be placed with our Customer Service Department. Experienced technicians at The Jackson Laboratory have recovered frozen embryos of this strain successfully. We will provide you enough embryos to perform two embryo transfers. The Jackson Laboratory does not guarantee successful recovery at your facility. For complete information on purchasing embryos, please visit our Cryopreserved Embryos web page.

    1 Shipments cannot be made to Australia due to Australian government import restrictions.
    2 Embryos for most strains are cryopreserved at the two cell stage while some strains are cryopreserved at the eight cell stage. If this information is important to you, please contact Customer Service.
  • Cryorecovery of Strains Needing Progeny Testing
    At least two untested males and two untested females (two pairs) will be recovered (eight or more mice is typical). The total number of animals provided, their gender and genotype will vary. Untested animals typically are available to ship between 10 and 14 weeks from the date of your order. If the first recovery attempt is unsuccessful, a second recovery will be done, extending the overall recovery time to approximately 25 weeks. 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 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 (from any location). The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
    Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

General Supply Notes

  • View the complete collection of spontaneous mutants in the Mouse Mutant Resource.

Control Information

  Control
   Heterozygote from the colony
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

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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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