Overview

This strain carries two spontaneous mutations in repulsion, jittery (Atcay^ji) and grizzled (Mfsd12^gr). Jittery mice are characterized by muscular incoordination and seizures. Grizzled mice are characterized by a coat color resembling chinchilla and small size.

Genetic overview

Genetic Background	Generation

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Research Applications

Developmental Biology Research
Neurobiology Research
Mouse/Human Gene Homologs
Dermatology Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Important Note

This strain carries gr and Atcay^ji in repulsion.

Detailed Description

JIGR/Dn is maintained with jittery (Atcay^ji) and grizzled (Mfsd12^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.)

Mfsd12^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 Mfsd12^gr/Mfsd12^gr coat color is grayish agouti. On a non-agouti background the hair in the ears and around the genitalia is white. The Mfsd12^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 (Mfsd12^gr/Mfsd12^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 Mfsd12^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 +/+ Mfsd12^gr males and females at F74.

Control Suggestions

Untyped from the colony

Additional Information

Considerations for Choosing Controls

Selected References

Crawford NG; Kelly DE; Hansen MEB; Beltrame MH; Fan S; Bowman SL; Jewett E; Ranciaro A; Thompson S; Lo Y; Pfeifer SP; Jensen JD; Campbell MC; Beggs W; Hormozdiari F; Mpoloka SW; Mokone GG; Nyambo T; Meskel DW; Belay G; Haut J; Rothschild H; Zon L; Zhou Y; Kovacs MA; Xu M; Zhang T; Bishop K; Sinclair J; Rivas C; Elliot E; Choi J; Li SA; Hicks B; Burgess S; Abnet C; Watkins-Chow DE; Oceana E; Song YS; Eskin E; Brown KM; Marks MS; Loftus SK; Pavan WJ; Yeager M; Chanock S; Tishkoff SA. 2017. Loci associated with skin pigmentation identified in African populations. Science 358(6365)PubMed: 29025994 MGI: J:243759

View All References

Genetics

Mfsd12^gr

Allele Symbol: Mfsd12^gr

Allele Name	grizzled
Allele Type	Spontaneous (Null/Knockout)
Allele Synonym(s)
Gene Symbol and Name	Mfsd12, major facilitator superfamily domain containing 12
Gene Synonym(s)
Strain of Origin	A x STOCK-Sgk3^fz
Chromosome	10
Molecular Note	A spontaneous mutation deletes 9 base pairs in-frame within exon 2.

Atcay^ji

Allele Symbol: Atcay^ji

Allele Name	jittery
Allele Type	Spontaneous
Allele Synonym(s)	ji
Gene Symbol and Name	Atcay, ataxia, cerebellar, Cayman type
Gene Synonym(s)
Strain of Origin	BALB
Chromosome	10
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.

Disease/Phenotype

Disease Terms

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).

Cayman type cerebellar ataxia

Research Areas By Phenotype

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

Genotype: Atcay^ji related

Developmental Biology Research
- Growth Defects
- Postnatal Lethality
  - Homozygous
Neurobiology Research
- Ataxia (Movement) Defects
- Epilepsy
- Tremor Defects
Mouse/Human Gene Homologs
- ataxia, cerebellar, Cayman type

Genotype: Mfsd12^gr related

Developmental Biology Research
- Postnatal Lethality
- Perinatal Lethality
  - Homozygous
- Craniofacial and Palate Defects
- Growth Defects
Dermatology Research
- Color and White Spotting Defects

Mammalian Phenotype Terms by Genotype

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

Genotype: Mfsd12^gr/Mfsd12^gr
involves: A * STOCK fz

craniofacial phenotype

abnormal craniofacial bone morphology
- commom among E16-18 fetuses; not seen among pups after birth

abnormal cranium morphology

abnormal jaw morphology
- most frequent abnormaity among E16-18 fetuses; not seen among pups after birth

integument phenotype

absent coat pigmentation
- on a non-agouti background hairs on the ears and genitalia normally yellow are white

diluted coat color
- agouti mice look like chinchilla (A/A;c^ch/c^ch)
- dilutes yellow pigment (phaeomelanin)

limbs/digits/tail phenotype

abnormal tail morphology

kinked tail
- occasionally seen

mortality/aging

postnatal lethality, incomplete penetrance
- more females than males survive
- some mutants survive to maturity

premature death
- mortality occurs at all stages with loss of 50-60% of mutants

prenatal lethality, incomplete penetrance
- cranial-facial defects commonly seen may contribute to mortality
- some survive to birth

pigmentation phenotype

absent coat pigmentation
- on a non-agouti background hairs on the ears and genitalia normally yellow are white

diluted coat color
- agouti mice look like chinchilla (A/A;c^ch/c^ch)
- dilutes yellow pigment (phaeomelanin)

reproductive system phenotype

abnormal ovulation

decreased ovulation rate
- although low compared to normal, ovulation rate is consistent with smaller size of mutant mice

skeleton phenotype

abnormal craniofacial bone morphology
- commom among E16-18 fetuses; not seen among pups after birth

abnormal cranium morphology

abnormal jaw morphology
- most frequent abnormaity among E16-18 fetuses; not seen among pups after birth

abnormal skeleton morphology

growth/size/body region phenotype

abnormal body weight
- weight is 25% less than normal at birth and remains 10-20% below weight of normal littermates

abnormal postnatal growth/weight/body size

decreased body size
- 10% smaller than normal littermates as adults
- 20-30% smaller than normal littermates at birth
- reduced body size

decreased body weight
- weight data between 2 and 6 weeks of age show females are 75-80% of normal weight; males are 90-95% of normal weight

Genotype: Atcay^ji/Atcay^ji
Not Specified

behavior/neurological phenotype

ataxia
- progressive impaired coordination beginning at 10 to 16 days of age

dystonia
- severe muscle tetany was exhibited after the onset of impaired coordination

impaired righting response
- animals exhibited difficulty righting themselves after being placed on their backs

seizures
- seizures become progressively worse with age

hematopoietic system phenotype

abnormal thymus cortex morphology
- the cortex appears as a mass of stromal cells and an absence of lymphocytes was noted

abnormal thymus medulla morphology
- the thymic medulla is filled with cell debris and pyknotic nuclei

abnormal thymus morphology

immune system phenotype

abnormal thymus cortex morphology
- the cortex appears as a mass of stromal cells and an absence of lymphocytes was noted

abnormal thymus medulla morphology
- the thymic medulla is filled with cell debris and pyknotic nuclei

abnormal thymus morphology

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

muscle phenotype

dystonia
- severe muscle tetany was exhibited after the onset of impaired coordination

muscle spasm
- severe muscle tetany was exhibited after the onset of impaired coordination

nervous system phenotype

abnormal adenohypophysis morphology
- anterior pituitary lobes were congested and hypercellular

abnormal brain white matter morphology
- polycystic alterations in white matter of the brain were noted

motor neuron degeneration
- degeneration of the motor neurons of the lumbar spinal cord was noted; cells appeared vacuolated

seizures
- seizures become progressively worse with age

endocrine/exocrine gland phenotype

abnormal adenohypophysis morphology
- anterior pituitary lobes were congested and hypercellular

abnormal thymus cortex morphology
- the cortex appears as a mass of stromal cells and an absence of lymphocytes was noted

abnormal thymus medulla morphology
- the thymic medulla is filled with cell debris and pyknotic nuclei

abnormal thymus morphology

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

abnormal thyroid gland physiology
- hypoactive thyroid
- involuted thymus glands; involution is first noted coincident with the onset of impaired coordination

The following phenotype relates to a compound genotype created using this strain

Genotype: Atcay^ji/Atcay^ji
JIGR

behavior/neurological phenotype

ataxia
- at 3 weeks mice are unable to walk or to right themselves
- severe truncal and limb ataxia

homeostasis/metabolism phenotype

dehydration

mortality/aging

premature death
- mice die at 3 to 4 weeks of dehydration and starvation

References

Crawford NG; Kelly DE; Hansen MEB; Beltrame MH; Fan S; Bowman SL; Jewett E; Ranciaro A; Thompson S; Lo Y; Pfeifer SP; Jensen JD; Campbell MC; Beggs W; Hormozdiari F; Mpoloka SW; Mokone GG; Nyambo T; Meskel DW; Belay G; Haut J; Rothschild H; Zon L; Zhou Y; Kovacs MA; Xu M; Zhang T; Bishop K; Sinclair J; Rivas C; Elliot E; Choi J; Li SA; Hicks B; Burgess S; Abnet C; Watkins-Chow DE; Oceana E; Song YS; Eskin E; Brown KM; Marks MS; Loftus SK; Pavan WJ; Yeager M; Chanock S; Tishkoff SA. 2017. Loci associated with skin pigmentation identified in African populations. Science 358(6365)PubMed: 29025994 MGI: J:243759

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):533-8PubMed: 8812488 MGI: J:34619

Additional - Atcay^ji related

Additional - Mfsd12^gr related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Breeding Considerations

JIGR/Dn is maintained with jittery (Atcay^ji) and grizzled (gr) in repulsion. Homozygous gr have reduced viability and homozygous ji die between 17 and 20 days of age. Breeding is performed by mating repulsion double heterozygotes, ji +/+ gr, which are expected to yield 25% jittery, 50% wild-type repulsion double heterozygotes for further breeding, and 25% grizzled. The risk of recombination is minimal.
- Additional Breeding and Husbandry Support
Appearance
- agouti, unaffected
  Related Genotype: A/A ? +/+ ? (unproven) or A/A gr +/+ Atcay^ji (proven)
Citation
When using the JIGR/DnJ mouse strain in a publication, please include JAX stock #000572 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

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

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Genes in Repulsion: Assumed Heterozygous for ji (Untested), Assumed Heterozygous for gr(Untested)

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.

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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

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General Terms and Conditions

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JAX® Mice, Products & Services Conditions of Use

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Genetic overview

Research Applications

Base Price

Important Note

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

Mfsd12gr

Allele Symbol: Mfsd12gr

Atcayji

Allele Symbol: Atcayji

Disease Terms

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).

Research Areas By Phenotype

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

Genotype: Atcayji related

Genotype: Mfsd12gr related

Mammalian Phenotype Terms by Genotype

Genotype: Mfsd12gr/Mfsd12grinvolves: A * STOCK fz

craniofacial phenotype

integument phenotype

limbs/digits/tail phenotype

mortality/aging

pigmentation phenotype

reproductive system phenotype

skeleton phenotype

growth/size/body region phenotype

Genotype: Atcayji/AtcayjiNot Specified

behavior/neurological phenotype

hematopoietic system phenotype

immune system phenotype

mortality/aging

muscle phenotype

nervous system phenotype

endocrine/exocrine gland phenotype

Genotype: Atcayji/AtcayjiJIGR

behavior/neurological phenotype

homeostasis/metabolism phenotype

mortality/aging

References

Additional References

Additional - Atcayji related

Additional - Mfsd12gr related

Genotyping Protocols

Breeding Considerations

Appearance

Citation

Animal Health Reports

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

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Mfsd12^gr

Allele Symbol: Mfsd12^gr

Atcay^ji

Allele Symbol: Atcay^ji

Genotype: Atcay^ji related

Genotype: Mfsd12^gr related

Genotype: Mfsd12^gr/Mfsd12^gr
involves: A * STOCK fz

Genotype: Atcay^ji/Atcay^ji
Not Specified

Genotype: Atcay^ji/Atcay^ji
JIGR

Additional - Atcay^ji related

Additional - Mfsd12^gr related