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. Species laboratory mouse H2 Haplotype b Generation N?+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investigator reports that the phenotype observed on the C57BL/6J background is similar to the original JIGR background (unpublished).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 (Atcay^ji) 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   Atcay^ji allele

000572

JIGR/DnJ

View Strains carrying   Atcay^ji     (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

- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Cerebellar Ataxia, Cayman Type; ATCAY   (ATCAY)

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

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

Atcay^ji/Atcay^ji

        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)

Atcay^ji/Atcay^ji

        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:

Atcay^ji related

Developmental Biology Research
Growth Defects
Postnatal Lethality
      Homozygous

Mouse/Human Gene Homologs
ataxia, cerebellar, Cayman type

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 Origin		BALB/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

Atcay^ji, 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

Atcay^ji 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 & Husbandry	When 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

General Supply Notes

• View the complete collection of spontaneous mutants in the Mouse Mutant Resource.
• Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Wild-type from the colony
	000664 C57BL/6J
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

See Terms of Use tab for General Terms and Conditions

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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