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Strain Name:

JIGR/DnJ

Stock Number:

000572

Availability:

Repository-Cryopreserved


General Terms and Conditions

Former Name      Jittery and Grizzled    (Changed: 15-DEC-04 )
Genes & Alleles   Atcay;   Atcayji;   gr;


Product Information

Strain Details

Type Inbred Strain
Additional information on Inbred Strains.
Type JAX® GEMM® Strain - Spontaneous Mutation
Additional information on JAX® GEMM® Strains.
Specieslaboratory mouse
GenerationF75

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

Important Note
This strain carries gr and Atcayji in repulsion.

Strain Description
JIGR/Dn is maintained with jittery (Atcayji) and grizzled (gr) in repulsion.

Atcayji 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 Atcayji 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 (Tyrc-ch/Tyrc-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.)

Strain 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 (Atcayji/Atcayji) male was outcrossed to a C57BL10 female. Following this cross sibling matings were used until F15 in 1964 when a Atcayji/Atcayji 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 Atcayji 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 Atcayji +/+ gr males and females at F74.

Mammalian Phenotype Terms assigned by genotype

Atcayji/Atcayji

        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.

Atcayji/Atcayji

        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 spasms (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

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;cch/cch)
  • 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;cch/cch)
  • 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

Gene & Allele Details

Allele Symbol Atcayji
Allele Name jittery
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; 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
Strain of OriginA x STOCK-Sgk3fz
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]

Control Information

  Allele   Control
 Atcayji  Untyped from the colony
 gr  Untyped from the colony
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   Atcayji allele
008140   B6.C(Cg)-Atcayji/BurJ
View Strains carrying   Atcayji     (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)

Research Applications

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

Atcayji 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

References

Additional References

Price and Supply Information

Strain Name: JIGR/DnJ
Stock Number: 000572

Price Details

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Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.
Supply Notes Cryorecovery - Standard.
The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that 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. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services: Tel: 1-800-422-6423 or 1-207-288-5845; Email: jaxservices@jax.org.
Genomic DNA is available for this strain from the Mouse DNA Resource.

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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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