JAX Mouse Strain Datasheet - 028099

STOCK Tor1a^tm4.1Wtd/J

Stock No:: 028099 |; Tor1a^swap

Targeted Mutation

Cryo Recovery

Overview

Also Known As: Tor1a^swap

Tor1a^swap mutant mice possess loxP sites flanking exon 5 of the Tor1a gene, and also contains a downstream mutant exon 5. Removal of the floxed wild type exons allows expression of the mutant exon 5. This strain may be useful for studying the autosomal dominant disorder, DYT1 dystonia.

Donating Investigator

William Dauer, University of Michigan Medical School

Genetic overview

Genetic Background	Generation

Tor1a^tm4.1Wtd

Allele Type	Gene Symbol	Gene Name
Targeted (Conditional ready (e.g. floxed), No functional change)	Tor1a	torsin family 1, member A (torsin A)

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Research Applications

Neurobiology Research
Research Tools

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Base Price

Starting at:

$2,595.00 Domestic price Cryo Recovery

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Details

Detailed Description

Tor1a^swap mutant mice possess loxP sites flanking exon 5 of the torsin family 1, member A (torsin A) Tor1a gene. They also contain a downstream mutant exon 5 with a ΔE knockin. Tor1a is an ATPases Associated with diverse Activities (AAA⁺) protein residing in the lumen of the ER/nuclear envelope (ER/NE) space. The in-frame ΔE deletion in TOR1A has been shown to cause the autosomal dominant disorder, DYT1 dystonia, which is characterized by abnormal, involuntary twisting movements and muscle contractions due to selective dysfunction of CNS motor circuits. Tor1a^swap mice that are homozygous for this allele are viable and fertile. When bred to mice that express tissue-specific Cre recombinase, resulting offspring will have wildtype exon 5 deleted, and will instead express the ΔE knockin in the cre-expressing tissues.

When mice are generated carrying one Tor1a^swap allele, one Tor1a^flox allele (from Stock No. 025832) and Cre from B6.Cg-Tg(Nes-cre)1Kln/J mice (from Stock No. 003771), they shoe reduced survival and surviving animals show decreased growth rate adn selective degeneration of CNS motor circuits. A similar phenotype is present in homozygous induced- ΔE KI mice with cre from Stock No. 003771. The increased dosage of torsin A in these animals suppresses the lack of function mediated growth deficiency but does not supress motor abnormalities.

Development

A targeting vector was designed by Dr. William Dauer (University of Michigan) to insert a loxP site upstream of exon 5 followed by a frt-flanked neomycin resistance (neo) cassette, and a second loxP site downstream of exon 5 of the torsin family 1, member A (torsin A) (Tor1a) gene. A mutant exon 5, with a glutamic acid residue deletion, was inserted downstream of the neo cassette. This results in a ΔE knockin shown to cause the autosomal dominant disorder, DYT1 dystonia. The construct was electroporated into B6/129SvEv embryonic stem (ES) cells. Correctly targeted ES cells were injected into blastocysts and resulting chimeric mice were bred with Flp transgenic mice to delete the neo cassette. Resulting progeny were crossed to remove the Flp-expressing transgene, and Tor1a^swap offspring were maintained on a mixed B6;129 background. Upon arrival, sperm was cryopreserved. To establish our live colony, an aliquot of frozen sperm was used to fertilize C57BL/6J oocytes (Stock No. 000664).

Control Suggestions

None Available

Additional Information

Considerations for Choosing Controls

Selected References

Weisheit CE; Dauer WT. 2015. A novel conditional knock-in approach defines molecular and circuit effects of the DYT1 dystonia mutation. Hum Mol Genet 24(22):6459-72. PubMed: 26370418 MGI: J:225567

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Genetics

Tor1a^tm4.1Wtd

Allele Symbol: Tor1a^tm4.1Wtd

Allele Name	targeted mutation 4.1, William T Dauer
Allele Type	Targeted (Conditional ready (e.g. floxed), No functional change)
Allele Synonym(s)	Tor1a^swap
Gene Symbol and Name	Tor1a, torsin family 1, member A (torsin A)
Gene Synonym(s)	DQ2; DYT1; Dyt1; Dyt1; dystonia 1; torsin family 1, member A; torsinA
Strain of Origin	129S/SvEv x C57BL/6
Chromosome	2
Molecular Note	A targeting vector was designed to insert a loxP site upstream of exon 5 followed by a FRT-flanked neomycin resistance (neo) cassette, and a second loxP site downstream of exon 5 of the gene. A mutant exon 5, with a glutamic acid residue deletion, was inserted downstream of the neo cassette. Flp-mediated recombination removed the FRT-flanked neo cassette.

Disease/Phenotype

Disease Terms

Research Areas By Genotype

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

Neurobiology Research
- Ataxia (Movement) Defects
- Cerebellar Defects
- Channel and Transporter Defects
  - calcium: glutamate receptor
- Cre-lox System
  - loxP-flanked Sequences
- Receptor Defects
Research Tools
- Cre-lox System
  - loxP-flanked Sequences

Mammalian Phenotype Terms by Genotype

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

Genotype: Tor1a^tm4.1Wtd/Tor1a^tm4.1Wtd
involves: 129S/SvEv * C57BL/6

normal phenotype

no abnormal phenotype detected
- mice are viable and fertile

References

Weisheit CE; Dauer WT. 2015. A novel conditional knock-in approach defines molecular and circuit effects of the DYT1 dystonia mutation. Hum Mol Genet 24(22):6459-72. PubMed: 26370418 MGI: J:225567

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service	Genotype	Price
	Heterozygous or wildtype for Tor1a<tm4.1Wtd>

We will fulfill your order by providing at least two carriers for each strain ordered. The total number, sex, and genotypes provided will vary, although typically 8 or more animals are provided. Please check genotypes which will be recovered. While the genotypes of all animals produced will be communicated to you prior to scheduling shipment, the genotypes of animals provided may not reflect the mating scheme and genotypes described in the strain description. Animals are typically ready to ship in 11-14 weeks. If a second recovery is required to produce the minimum number of animals, then delivery time would increase to approximately 25 weeks. If we fail to produce animals of the correct genotype, you will not be charged. We 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.

Related Products and Services

Frozen Mouse Embryo

$2,595.00 per straw or vial

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.

Terms Of Use

Terms of Use

General Terms and Conditions

Questions about Terms of Use

Additional Use Restrictions Apply

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Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

JAX® Mice, Products & Services Conditions of Use

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In no event shall JACKSON, 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 JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS, or SERVICES from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

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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 JACKSON, 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 or SERVICES by JACKSON.

Also Known As: Tor1aswap

Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

Tor1atm4.1Wtd

Allele Symbol: Tor1atm4.1Wtd

Disease Terms

Research Areas By Genotype

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

Mammalian Phenotype Terms by Genotype

Genotype: Tor1atm4.1Wtd/Tor1atm4.1Wtdinvolves: 129S/SvEv * C57BL/6

normal phenotype

References

Genotyping Protocols

Breeding Considerations

Mating System

Citation

Animal Health Reports

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

Live Mouse

Cryorecovery - Pricing

Related Products and Services

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms of Use

Additional Use Restrictions Apply

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Also Known As: Tor1a^swap

Tor1a^tm4.1Wtd

Allele Symbol: Tor1a^tm4.1Wtd

Genotype: Tor1a^tm4.1Wtd/Tor1a^tm4.1Wtd
involves: 129S/SvEv * C57BL/6