Description

Strain Information

Type Congenic; Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered Mutant Mice. Mating System +/+ sibling x Heterozygote         (Female x Male) Species laboratory mouse H2 Haplotype b Generation N16+ (06-OCT-08)

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investigator reports that the phenotype observed on the C57BL/6J background is similar to the original JIGR background (unpublished).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)

Additional Web Information

Congenic Nomenclature

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      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

• life span-post-weaning/aging
• premature death (MGI Ref ID J:14903)
  • 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
• behavior/neurological phenotype
• ataxia (MGI Ref ID J:14903)
  • progressive impaired coordination beginning at 10 to 16 days of age
• dystonia (MGI Ref ID J:14903)
  • severe muscle tetany was exhibited after the onset of impaired coordination
• impaired righting response (MGI Ref ID J:14903)
  • animals exhibited difficulty righting themselves after being placed on their backs
• seizures (MGI Ref ID J:14903)
  • seizures become progressively worse with age
• endocrine/exocrine gland phenotype
• abnormal adenohypophysis morphology (MGI Ref ID J:14903)
  • anterior pituitary lobes were congested and hypercellular
• abnormal thyroid follicle morphology (MGI Ref ID J:14903)
  • 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
• abnormal thyroid physiology (MGI Ref ID J:14903)
  • hypoactive thyroid
• immune system phenotype
• abnormal thymus morphology (MGI Ref ID J:14903)
  • involuted thymus glands; involution is first noted coincident with the onset of impaired coordination
  • the thymic medulla is filled with cell debris and pyknotic nuclei; the cortex appears as a mass of stromal cells and an absence of lymphocytes was noted
• muscle phenotype
• dystonia (MGI Ref ID J:14903)
  • severe muscle tetany was exhibited after the onset of impaired coordination
• muscle spasm (MGI Ref ID J:14903)
  • severe muscle tetany was exhibited after the onset of impaired coordination
• nervous system phenotype
• abnormal adenohypophysis morphology (MGI Ref ID J:14903)
  • anterior pituitary lobes were congested and hypercellular
• abnormal brain white matter morphology (MGI Ref ID J:28103)
  • polycystic alterations in white matter of the brain were noted
• motor neuron degeneration (MGI Ref ID J:14903)
  • degeneration of the motor neurons of the lumbar spinal cord was noted; cells appeared vacuolated
• seizures (MGI Ref ID J:14903)
  • seizures become progressively worse with age
• hematopoietic system phenotype
• abnormal thymus morphology (MGI Ref ID J:14903)
  • involuted thymus glands; involution is first noted coincident with the onset of impaired coordination
  • the thymic medulla is filled with cell debris and pyknotic nuclei; the cortex appears as a mass of stromal cells and an absence of lymphocytes was noted

Atcay^ji/Atcay^ji

        JIGR

• life span-post-weaning/aging
• premature death (MGI Ref ID J:85793)
  • mice die at 3 to 4 weeks of dehydration and starvation
• behavior/neurological phenotype
• ataxia (MGI Ref ID J:85793)
  • severe truncal and limb ataxia
  • at 3 weeks mice are unable to walk or to right themselves
• 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 Mortality (Homozygous)

Mouse/Human Gene Homologs
ataxia, cerebellar, Cayman type

Neurobiology Research
Ataxia (Movement) Defects
Epilepsy
Tremor Defects

Genes & Alleles

Gene & Allele Information

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; KIAA1872; 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

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Optimizing PCR Protocols

References

References

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]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           AX11

Colony Maintenance

Breeding & Husbandry	When maintaining a live colony, these mice are bred as heterozygotes. Homozygous mice die by 4 weeks of age.
Mating System	+/+ sibling x Heterozygote         (Female x Male)
Diet Information	LabDiet® 5K52/5K67

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply

Repository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of ~nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within 48 hours of order placement.

Supply Notes

Usually shipped between four and eight weeks of age. This strain is included in the Mouse Mutant Resource collection.

Control Information

	Control
	Wild-type from the colony
	000664 C57BL/6J
Considerations for Choosing Controls
USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
International - Control Pricing Information for Genetically Engineered Mutant Strains.

General Terms and Conditions

See Terms 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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Ordering and Purchasing Information

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Contact Information
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Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
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Terms of Use

Terms of Use

General Terms and Conditions

Use restrictions apply, see Policy on Licensing and Use Restrictions.

Contact information

General inquiries

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phone:	207-288-6470
fax:	207-288-6655

JAX^® Mice & Services Conditions of Use

“Each recipient institution, including its employees and other researchers under its control (RECIPIENT), of mice or services using mice from The Jackson Laboratory (TJL) agrees that such mice, descendants of those mice derived by inbreeding or crossbreeding, including unmodified derivatives of those mice or their descendants (“MICE”) shall not be: (i) used for any purpose other than the internal research of the RECIPIENT, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services with respect to MICE. Acceptance of MICE from TJL shall be deemed agreement by RECIPIENT to these conditions, and departure from these conditions requires The Jackson Laboratory’s prior written authorization.”

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of MICE, products or services, The Jackson Laboratory will, at its option, provide credit or replacement for the MICE or product received or the services provided.

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In no event shall The Jackson Laboratory, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, products or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of The Jackson Laboratory, its agents or employees. In purchasing or receiving MICE, products or services from The Jackson Laboratory, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges The Jackson Laboratory from all such causes of action or damages, and further agrees to defend and indemnify The Jackson Laboratory from any costs or damages arising out of any third party claims.

MICE and biological materials are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to The Jackson Laboratory’s MICE, products and services. In addition, special terms and conditions of sale of certain MICE, products and services may be set forth separately in The Jackson Laboratory web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, products and services by The Jackson Laboratory, and by its licensees and distributors.

Acceptance of delivery of MICE, products or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on The Jackson Laboratory, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, products services by The Jackson Laboratory.