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

Former Names Jittery and Grizzled    (Changed: 15-DEC-04 ) Type Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Type Inbred Strain; Additional information on Inbred Strains. Visit our online Nomenclature tutorial. Species laboratory mouse Generation F75

Appearance
agouti, unaffected
Related Genotype: A/A ? +/+ ? (unproven) or A/A gr +/+ Atcay^ji (proven)

Important Note
This strain carries gr and Atcay^ji in repulsion.

Description
JIGR/Dn is maintained with jittery (Atcay^ji) and grizzled (gr) in repulsion.

Atcay^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 Atcay^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.)

gr is a recessive mutation that occasionally causes tail kinks and consistently causes dilution of the yellow pigment but not the black pigment of the hair. The coat color has been described as similar to chinchilla (Tyr^c-ch/Tyr^c-ch) but with the black pigment remaining undiluted. On the agouti JIGR/Dn background the gr/gr coat color is grayish agouti. On a non-agouti background the hair in the ears and around the genitalia is white. The gr mutation causes 40-50% mortality prior to phenotypic classification and this affects males more than females. This mortality is both postnatal and prenatal from approximately 10 days onward. Pregnant dams expected to carry some homozygotes have been found to carry some dead embryos some of which had craneofacial abnormalities including shortened snout and swollen optic and occipital regions. At birth homozygotes weigh an average of one quarter less than their wildtype siblings. Although they increase in weight as suckling pups, as adults they still weigh 5-25% less than their wild type siblings. (Falconer, 1950; Bloom and Falconer, 1966.)

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 (Atcay^ji/Atcay^ji) male was outcrossed to a C57BL10 female. Following this cross sibling matings were used until F15 in 1964 when a Atcay^ji/Atcay^ji male was mated to an inbred grizzled (gr/gr) female at F30. Grizzled had appeared in descendants of mice from a cross of strain A at Edinburgh and a fuzzy stock from Cambridge. The Jackson Laboratory received grizzled from Dr. D. Falconer at Edinburgh in 1950. It had been crossed twice to CBA and was then sister x brother bred by Snell using forced heterozygosis. Because Atcay^ji and gr were closely linked on Chromosome 10 a balanced cross with the two loci in repulsion was used to maintain the JIGR strain. It was inbred and cryopreserved in 1987 by mating presumed Atcay^ji +/+ gr males and females at F74.

Control Information

	Control
	Untyped from the colony
Considerations for Choosing Controls

Related Strains

Strains carrying   Atcay^ji allele

008140

B6.C(Cg)-Atcayji/BurJ

View Strains carrying   Atcay^ji     (1 strain)

Strains carrying   gr allele

000279

STOCK gr +/+ Ap3d1mh/J

View Strains carrying   gr     (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 Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

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)

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
  • involuted thymus glands; involution is first noted coincident with the onset of impaired coordination
• immune system phenotype
• abnormal thymus morphology (MGI Ref ID J:14903)
• abnormal thymus cortex morphology (MGI Ref ID J:14903)
  • the cortex appears as a mass of stromal cells and an absence of lymphocytes was noted
• abnormal thymus medulla morphology (MGI Ref ID J:14903)
  • the thymic medulla is filled with cell debris and pyknotic nuclei
• 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)
• abnormal thymus cortex morphology (MGI Ref ID J:14903)
  • the cortex appears as a mass of stromal cells and an absence of lymphocytes was noted
• abnormal thymus medulla morphology (MGI Ref ID J:14903)
  • the thymic medulla is filled with cell debris and pyknotic nuclei

gr/gr

        involves: A * STOCK fz

• lethality-prenatal/perinatal
• prenatal lethality (MGI Ref ID J:11987)
  • some survive to birth
  • cranial-facial defects commonly seen may contribute to mortality
• lethality-postnatal
• postnatal lethality (MGI Ref ID J:11987)
  • some mutants survive to maturity
  • more females than males survive
• pigmentation phenotype
• absent coat pigmentation (MGI Ref ID J:24769)
  • on a non-agouti background hairs on the ears and genitalia normally yellow are white
• diluted coat color (MGI Ref ID J:11987)
  • dilutes yellow pigment (phaeomelanin)
  • agouti mice look like chinchilla (A/A;c^ch/c^ch)
• growth/size phenotype
• abnormal postnatal growth/weight/body size (MGI Ref ID J:11987)
• abnormal body weight (MGI Ref ID J:11987)
  • weight is 25% less than normal at birth and remains 10-20% below weight of normal littermates
• decreased body weight (MGI Ref ID J:11987)
  • weight data between 2 and 6 weeks of age show females are 75-80% of normal weight; males are 90-95% of normal weight
• decreased body size (MGI Ref ID J:11987)
  • reduced body size
  • 20-30% smaller than normal littermates at birth
  • 10% smaller than normal littermates as adults
• decreased body weight (MGI Ref ID J:11987)
  • weight data between 2 and 6 weeks of age show females are 75-80% of normal weight; males are 90-95% of normal weight
• skin/coat/nails phenotype
• absent coat pigmentation (MGI Ref ID J:24769)
  • on a non-agouti background hairs on the ears and genitalia normally yellow are white
• diluted coat color (MGI Ref ID J:11987)
  • dilutes yellow pigment (phaeomelanin)
  • agouti mice look like chinchilla (A/A;c^ch/c^ch)
• skeleton phenotype
• abnormal skeleton morphology (MGI Ref ID J:11987)
• abnormal craniofacial bone morphology (MGI Ref ID J:11987)
  • commom among E16-18 fetuses; not seen among pups after birth
• abnormal skull morphology (MGI Ref ID J:11987)
• abnormal jaw morphology (MGI Ref ID J:11987)
  • most frequent abnormaity among E16-18 fetuses; not seen among pups after birth
• abnormal orbital bone morphology (MGI Ref ID J:11987)
  • frequently seen among E16-18 fetuses; not seen among pups after birth
• craniofacial phenotype
• abnormal craniofacial bone morphology (MGI Ref ID J:11987)
  • commom among E16-18 fetuses; not seen among pups after birth
• abnormal skull morphology (MGI Ref ID J:11987)
• abnormal jaw morphology (MGI Ref ID J:11987)
  • most frequent abnormaity among E16-18 fetuses; not seen among pups after birth
• abnormal orbital bone morphology (MGI Ref ID J:11987)
  • frequently seen among E16-18 fetuses; not seen among pups after birth
• reproductive system phenotype
• abnormal ovulation (MGI Ref ID J:11987)
• decreased ovulation frequency (MGI Ref ID J:11987)
  • although low compared to normal, ovulation rate is consistent with smaller size of mutant mice
• limbs/digits/tail phenotype
• abnormal tail morphology (MGI Ref ID J:11987)
• kinked tail (MGI Ref ID J:11987)
  • occasionally seen
• life span-post-weaning/aging
• premature death (MGI Ref ID J:11987)
  • mortality occurs at all stages with loss of 50-60% of mutants

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

gr related

Dermatology Research
Color and White Spotting Defects

Developmental Biology Research
Craniofacial and Palate Defects
Growth Defects
Perinatal Lethality
      Homozygous
Postnatal Mortality

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]
Allele Symbol		gr
Allele Name		grizzled
Allele Type		Spontaneous
Strain of Origin		A x STOCK-Sgk3fz
Gene Symbol and Name		gr, grizzled
Chromosome		10
Molecular Note		This allele maps to a region of homology with the human paralemmin gene, PALM. Direct sequencing of RNA from brains of homozygous mice and analysis of the paralemmin coding region showed no sequence abnormalities. [MGI Ref ID J:47933]

Genotyping

Genotyping Information

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

Helpful Links

Genotyping resources and troubleshooting

References

References

Additional References

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]

Atcay^ji related

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]

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]

gr related

Bloom JL; Falconer DS. 1966. "Grizzled", a mutant in linkage group X of the mouse. Genet Res 7:159-167.  [MGI Ref ID J:11987]

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]

Burwinkel B; Miglierini G; Jenne DE; Gilbert DJ; Copeland NG ; Jenkins NA ; Ring HZ ; Francke U ; Kilimann MW. 1998. Structure of the human paralemmin gene (PALM), mapping to human chromosome 19p13.3 and mouse chromosome 10, and exclusion of coding mutations in grizzled, mocha, jittery, and hesitant mice. Genomics 49(3):462-6. [PubMed: 9615234]  [MGI Ref ID J:47933]

Falconer DS. 1950. Mutant stocks Mouse News Lett 2:3.  [MGI Ref ID J:24769]

Grabner CP; Price SD; Lysakowski A; Cahill AL; Fox AP. 2006. Regulation of large dense-core vesicle volume and neurotransmitter content mediated by adaptor protein 3. Proc Natl Acad Sci U S A 103(26):10035-40. [PubMed: 16788073]  [MGI Ref ID J:111070]

Noebels JL; Sidman RL. 1989. Persistent hypersynchronization of neocortical neurons in the mocha mutant of mouse. J Neurogenet 6(1):53-6. [PubMed: 2778559]  [MGI Ref ID J:96307]

Qiao X; Pennesi M; Seong E; Gao H; Burmeister M; Wu SM. 2003. Photoreceptor degeneration and rd1 mutation in the grizzled/mocha mouse strain. Vision Res 43(8):859-65. [PubMed: 12668055]  [MGI Ref ID J:88031]

Silvers WK. 1979. The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction. In: The Coat Colors of Mice. Springer-Verlag, New York.  [MGI Ref ID J:78801]

Southard JL. 1970. Jackson circler, jc. Mouse News Lett 42:30.  [MGI Ref ID J:13506]

Health & husbandry

Health & Colony Maintenance Information

Currently there no information available for this strain. This may be due to the supply level of this strain.

Purchasing information

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

Pricing

Supply Details

Standard Supply	Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.
Supply Notes	Cryorecovery - Standard. 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. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 13 and 16 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). Genomic DNA is available for this strain from the Mouse DNA Resource.
Important Note
This strain carries gr and Atcayji in repulsion.

Control Information

	Control
	Untyped from the colony
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.

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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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