Strain Name:

B6.C(Cg)-Atcayji/BurJ

Stock Number:

008140

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Mice homozygous for the spontaneous mutation, jittery (ji) in Atcay (ataxia, cerebellar, Cayman type homolog), exhibit severe, progressive ataxia and die at approximately 4 weeks of age. This mutant mouse strain represents a model that may be useful in studies of congenital ataxia.

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 Congenic; Mutant Strain; Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Additional information on Congenic nomenclature.
Specieslaboratory mouse
H2 Haplotypeb
GenerationN?+N1
Generation Definitions

Appearance
black
Related Genotype: a/a

Description
ji homozygotes can first be identified at approximately 12 days of age by a leaning, zig-zag gait when they attempt to run and by the difficulty they have righting themselves when placed on their backs. Disease progression is rapid such that within two more days mutants are found to crouch on their heels in a squatting position and can not run without falling. Within three to four days of the first symptoms, tetany is seen during exertion or excitement. This is initially most pronounced in the forelegs, which the mice beat up and down during these two- to three-second spasms. Failure to gain weight is seen by the third week of life and it is unclear whether this results from an inability to take in food. The severity and frequency of tetany increases, and during the fourth week weight loss and increased weakness precede death. The mean age of death is approximately 31 days. Tetrahydrobiopterin levels in the brain and GTP cyclohydrolase activity in the liver are lower in ji homozygotes than normal. At 20 days of age, serum calcium is within normal ranges. Parabiotic twins made with an affected and an unaffected sibling do not transfer a mutant phenotype to the normal partner indicating that a diffusible factor does not cause the mutant phenotype. However, tetany and weight loss are inhibited in the mutant partner which also has increased longevity, yet still develops failed muscle coordination and a crouching posture. (DeOme, 1945; Snell, 1950; Duch et al., 1986.)
The donating investigator reports that the phenotype observed on the C57BL/6J background is similar to the original JIGR background (unpublished).

Development
Jittery (Atcayji) arose as a spontaneous mutation in BALB/c, the Bagg albino strain, before 1945. It was segregating in the waltzer stock (see V/Le, Stock No. 000275) that Dr. Ludwin sent to Dr. Snell at the Jackson Laboratory in 1947. Jittery remained segregating in the waltzer stock until 1959 when a jittery (ji/ji) male was outcrossed to a C57BL10 female. Following this cross sibling matings were used until F15 in 1964 when a ji/ji male was mated to an inbred grizzled (gr/gr) female at F30. Because ji and gr were closely linked on chromosome 10 a balanced cross with the two loci in repulsion was used to create the inbred JIGR strain (Stock No. 000572). Subsequently, Dr. Margit Burmeister at the University of Michigan outcrossed JIGR/DnJ to C57BL/6J and selected for ji. Backcrossing reached 15 generations in 2007. The strain was donated to the Repository in 2007.

Control Information

  Control
   Wild-type from the colony
   000664 C57BL/6J
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   Atcayji allele
000572   JIGR/DnJ
View Strains carrying   Atcayji     (1 strain)

Strains carrying other alleles of Atcay
001904   C3H-Atcayji-hes/J
View Strains carrying other alleles of Atcay     (1 strain)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Cerebellar Ataxia, Cayman Type; ATCAY
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain.

Atcayji/Atcayji

        BALB/c
  • mortality/aging
  • premature death
    • as seizures and impaired coordination become more severe, the mice lose the ability to obtain food and die, usually by 4 weeks old, from starvation and thirst   (MGI Ref ID J:14903)
  • behavior/neurological phenotype
  • ataxia
    • progressive impaired coordination beginning at 10 to 16 days of age   (MGI Ref ID J:14903)
  • dystonia
    • severe muscle tetany was exhibited after the onset of impaired coordination   (MGI Ref ID J:14903)
  • impaired righting response
    • animals exhibited difficulty righting themselves after being placed on their backs   (MGI Ref ID J:14903)
  • seizures
    • seizures become progressively worse with age   (MGI Ref ID J:14903)
  • endocrine/exocrine gland phenotype
  • abnormal adenohypophysis morphology
    • anterior pituitary lobes were congested and hypercellular   (MGI Ref ID J:14903)
  • abnormal thyroid follicle morphology
    • thyroid glands appear similar to controls at 11 days of age, but at 33 days of age the colloid is less homogeneous, the secreting cells are abnormally shaped and placed, and the connective tissue displays hyperplasia   (MGI Ref ID J:14903)
  • abnormal thyroid physiology
    • hypoactive thyroid   (MGI Ref ID J:14903)
    • involuted thymus glands; involution is first noted coincident with the onset of impaired coordination   (MGI Ref ID J:14903)
  • immune system phenotype
  • abnormal thymus morphology   (MGI Ref ID J:14903)
    • abnormal thymus cortex morphology
      • the cortex appears as a mass of stromal cells and an absence of lymphocytes was noted   (MGI Ref ID J:14903)
    • abnormal thymus medulla morphology
      • the thymic medulla is filled with cell debris and pyknotic nuclei   (MGI Ref ID J:14903)
  • muscle phenotype
  • dystonia
    • severe muscle tetany was exhibited after the onset of impaired coordination   (MGI Ref ID J:14903)
  • muscle spasm
    • severe muscle tetany was exhibited after the onset of impaired coordination   (MGI Ref ID J:14903)
  • nervous system phenotype
  • abnormal adenohypophysis morphology
    • anterior pituitary lobes were congested and hypercellular   (MGI Ref ID J:14903)
  • abnormal brain white matter morphology
    • polycystic alterations in white matter of the brain were noted   (MGI Ref ID J:28103)
  • motor neuron degeneration
    • degeneration of the motor neurons of the lumbar spinal cord was noted; cells appeared vacuolated   (MGI Ref ID J:14903)
  • seizures
    • seizures become progressively worse with age   (MGI Ref ID J:14903)
  • hematopoietic system phenotype
  • abnormal thymus morphology   (MGI Ref ID J:14903)
    • abnormal thymus cortex morphology
      • the cortex appears as a mass of stromal cells and an absence of lymphocytes was noted   (MGI Ref ID J:14903)
    • abnormal thymus medulla morphology
      • the thymic medulla is filled with cell debris and pyknotic nuclei   (MGI Ref ID J:14903)

Atcayji/Atcayji

        JIGR
  • mortality/aging
  • premature death
    • mice die at 3 to 4 weeks of dehydration and starvation   (MGI Ref ID J:85793)
  • behavior/neurological phenotype
  • ataxia
    • severe truncal and limb ataxia   (MGI Ref ID J:85793)
    • at 3 weeks mice are unable to walk or to right themselves   (MGI Ref ID J:85793)
  • homeostasis/metabolism phenotype
  • dehydration   (MGI Ref ID J:85793)
View Research Applications

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

Atcayji related

Developmental Biology Research
Growth Defects
Postnatal Lethality
      Homozygous

Neurobiology Research
Ataxia (Movement) Defects
Epilepsy
Tremor Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Atcayji
Allele Name jittery
Allele Type Spontaneous
Common Name(s) ji;
Strain of OriginBALB/c
Gene Symbol and Name Atcay, ataxia, cerebellar, Cayman type homolog (human)
Chromosome 10
Gene Common Name(s) 3322401A10Rik; BB077577; BNIP-H; CLAC; RIKEN cDNA 3322401A10 gene; expressed sequence BB077577; hes; hesitant; ji; jittery;
Molecular Note The mutation in the jittery mouse has been identified as a B1 element insertion in exon 4 and results in a predicted protein of only 62 endogenous residues plus 21 missense residues. [MGI Ref ID J:85793]

Genotyping

Genotyping Information

Genotyping Protocols

Atcayji, Standard PCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Bomar JM; Benke PJ; Slattery EL; Puttagunta R; Taylor LP; Seong E; Nystuen A; Chen W; Albin RL; Patel PD; Kittles RA; Sheffield VC; Burmeister M. 2003. Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. (Erratum) Nat Genet 35(3):264-9. [PubMed: 14556008]  [MGI Ref ID J:85793]

DeOme KB. 1945. A new recessive lethal mutation in mice Univ California Publ Zool 53(2):41-66.  [MGI Ref ID J:14903]

Additional References

Atcayji related

Harman PJ. 1950. Polycystic alterations in the white matter of the brain of the jittery mouse Anat Rec 106:304 (Abstr).  [MGI Ref ID J:28103]

Kapfhamer D; Sweet HO; Sufalko D; Warren S; Johnson KR; Burmeister M. 1996. The neurological mouse mutations jittery and hesitant are allelic and map to the region of mouse chromosome 10 homologous to 19p13.3. Genomics 35(3):533-8. [PubMed: 8812488]  [MGI Ref ID J:34619]

Sikora KM; Nosavanh LM; Kantheti P; Burmeister M; Hortsch M. 2012. Expression of Cayman Ataxia aytaxin protein in Cayman Ataxia mouse models correlates with phenotype severity. PLoS One 7(11):e50570. [PubMed: 23226316]  [MGI Ref ID J:194997]

Health & husbandry

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.

Health & Colony Maintenance Information

Animal Health Reports

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

Colony Maintenance

Breeding & HusbandryWhen maintaining a live colony, these mice are bred as heterozygotes. Homozygous mice die by 4 weeks of age.

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* $2085.00
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.

Standard Supply

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

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.
    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. 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* $2710.50
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.

Standard Supply

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

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.
    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. 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
   Wild-type from the colony
   000664 C57BL/6J
 
  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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