JAX Mouse Strain Datasheet - 017483

FVB-Tg(JPH3*)CXwy/J

Stock No:: 017483 |; BAC-HDL2

Cryo Recovery

Overview

Also Known As: BAC-HDL2

A mutant human JPH3 gene containing 116 CTG/CAG repeats in exon 2A is expressed in these mice. By 6 months of age they display neurodegeneration accompanied by a progressive motor deficit. Thes mice may have useful applications in the study of the polyglutamine (polyQ) neurodegenerative disease, Huntington's disease-like-2 (HDL2).

Donating Investigator

X. William Yang, University of California Los Angeles

Genetic overview

Genetic Background	Generation

Tg(JPH3*)CXwy

Allele Type
Transgenic (Humanized sequence, Inserted expressed sequence)

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Research Applications

Neurobiology Research

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Base Price

Starting at:

$2,595.00 Domestic price Cryo Recovery

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Details

Detailed Description

The autosomal dominant neurodegenerative disorder Huntington's disease-like-2 (HDL2) is caused by a CTG/CAG repeat expansion in exon 2A of the junctophilin 3 (JPH3) gene. A mutant human JPH3 gene containing 116 CTG/CAG repeats in exon 2A is expressed in these mice. Transgene mRNA expression is detected in brain by RT-PCR analysis and is approximately 2 fold greater than endogenous mouse Jph3 expression. Mutant protein levels are not significantly overexpressed. Transgenic mice exhibit progressive motor deficits by 6 months of age. At 3 months of age, no motor deficits are detected. By 12 months of age, transgenic mice have reduced forebrain weight and cortical volume. Ubiquitin-positive nuclear inclusions are detected in transgenic mice as early as 3 months of age in the the cortex and hippocampus. By 12 months of age, nuclear inclusions are detected in a pattern similar to that seen in human patients: upper cortical layers, hippocampus, amygdala, as well as in the cerebral cortex and striatum. Poly(CUG) RNA foci that colocalize with MBNL1 are detected in cortical sections from 6 month old transgenic mice. Mice hemizygous for the transgenic insert are viable, fertile, and normal in size. The Donating Investigator has not attempted to make the strain homozygous.

Development

The human bacterial artificial chromosome (BAC) RP11-33A21 containing the entire JPH3 gene, and approximately 30kb 5' and 40kb 3' genomic flanking sequence, was modified by inserting 120 CTG/CAG repeats in exon 2A. The transgenic construct was microinjected into the pronucleus of FVB/N fertilized eggs. Founder line C line, which has 116 CTG/CAG repeats, was subsequently established. Upon arrival at The Jackson Laboratory, the mice were crossed to FVB/NJ (Stock No. 001800) at least once to establish the colony.

Expression Data

Expressed Gene	JPH3, junctophilin 3, human
Site of Expression

Control Suggestions

Noncarrier
001800 FVB/NJ

Additional Information

Considerations for Choosing Controls

Selected References

Wilburn B; Rudnicki DD; Zhao J; Weitz TM; Cheng Y; Gu X; Greiner E; Park CS; Wang N; Sopher BL; La Spada AR; Osmand A; Margolis RL; Sun YE; Yang XW. 2011. An antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington's disease-like 2 mice. Neuron 70(3):427-40. PubMed: 21555070 MGI: J:174267

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Genetics

Tg(JPH3*)CXwy

Allele Symbol: Tg(JPH3*)CXwy

Allele Name	transgene insertion C, X William Yang
Allele Type	Transgenic (Humanized sequence, Inserted expressed sequence)
Allele Synonym(s)	BAC-HDL2
Gene Symbol and Name	Tg(JPH3*)CXwy, transgene insertion C, X William Yang
Gene Synonym(s)	BAC-HDL2
Promoter	JPH3, junctophilin 3, human
Expressed Gene	JPH3, junctophilin 3, human
Strain of Origin	FVB/N
Chromosome	UN
Molecular Note	The human BAC (RP11-33A21) was modified to include an expanded CTG/CAG track of 120 repeats in exon 2A of JPH3. This line has a single integration of the transgene with 116 CTG/CAG repeats. RT-PCR analysis indicates the level of overexpression of the transgene was about 100% of the endogenous gene.
Mutations Made By	X. William Yang, University of California Los Angeles

Disease/Phenotype

Disease Terms

Research Areas By Genotype

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

Neurobiology Research
- Huntington's disease
- Neurodegeneration

Mammalian Phenotype Terms by Genotype

Genotype: Tg(JPH3*)CXwy/0
involves: FVB/N

nervous system phenotype

abnormal amygdala morphology
- prominent ubiquitin immunoreactive inclusion bodies are detected at 12 months of age

abnormal cerebral cortex morphology
- CUG RNA foci are detected in the cortex
- prominent ubiquitin immunoreactive inclusion bodies are detected in the upper cortical layers at 12 months of age
- reduction in cortical but not striatal volume with age

abnormal forebrain morphology

abnormal hippocampus morphology
- prominent ubiquitin immunoreactive inclusion bodies are detected at 12 months of age

abnormal striatum morphology
- low levels of ubiquitin immunoreactive inclusion bodies are detected at 12 months of age

neurodegeneration
- selective forebrain atrophy develops with age

neuronal intranuclear inclusions
- inclusions are most abundant in the upper cortical layers, hippocampus, and amygdala with relatively low levels in the deep cortical layers and striatum
- inclusions can be detected as early as 3 months of age in the cortex and hippocampus
- prominent ubiquitin immunoreactive inclusion bodies are detected at 12 months of age

behavior/neurological phenotype

impaired coordination
- progressive motor deficits in a rotarod assay at 6 and 12 months of age, but not at 3 months of age

References

Wilburn B; Rudnicki DD; Zhao J; Weitz TM; Cheng Y; Gu X; Greiner E; Park CS; Wang N; Sopher BL; La Spada AR; Osmand A; Margolis RL; Sun YE; Yang XW. 2011. An antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington's disease-like 2 mice. Neuron 70(3):427-40. PubMed: 21555070 MGI: J:174267

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service	Genotype	Price
	Hemizygous or Non carrier for Tg(JPH3*)CXwy

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

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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.

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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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Also Known As: BAC-HDL2

Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Expression Data

Control Suggestions

Additional Information

Selected References

Tg(JPH3*)CXwy

Allele Symbol: Tg(JPH3*)CXwy

Disease Terms

Research Areas By Genotype

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

Mammalian Phenotype Terms by Genotype

Genotype: Tg(JPH3*)CXwy/0involves: FVB/N

nervous system phenotype

behavior/neurological phenotype

References

Genotyping Protocols

Breeding Considerations

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

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Genotype: Tg(JPH3*)CXwy/0
involves: FVB/N