Overview

Also Known As:B6.Hd(HD_1000aa) KI ; HQ0022-HD 1000(aa)TT ; CHDI-81003009

The Hd(HD_1000aa) KI targeted mutation has a CAG promoter and human huntingtin fragment encoding the first 1000 amino acids (with 145 mixed CAA-CAG repeats) replacing a partial promoter region and exon 1 of the endogenous Htt locus. These mice may be useful for studying Huntington's disease.

Donating Investigator

Dr. David Howland, CHDI Foundation

Genetic overview

Genetic Background	Generation

Htt^tm1(HTT)Arte

Allele Type	Gene Symbol	Gene Name
Targeted (Null/Knockout, Inserted expressed sequence)	Htt	huntingtin

View Genetics

Research Applications

Neurobiology Research
Research Tools

View All Research Applications

Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

View Price List

Details

Detailed Description

Stock No. 027435 was formerly associated with CHDI Foundation colony Stock No. 370266 [CHDI-81003009].

Huntington's disease (HD) is an autosomally dominant, fatal neurodegenerative disorder characterized by uncontrolled movements, psychiatric disturbances and cognitive impairment. HD is caused by an unstable trinucleotide (polyglutamine) repeat expansion in the huntingtin gene (HTT; HD or Hdh).

The Hd(HD_1000aa) KI targeted mutation has a CAG promoter and human huntingtin fragment encoding the first 1000 amino acids (with 145 mixed CAA-CAG repeats [see polyQ assay note below]) replacing a partial promoter region and exon 1 of the endogenous Htt locus. Endogenous Htt gene expression is disrupted. Heterozygous mice are expected to be viable and fertile. The phenotype of these mice is not further characterized to date (August 2015).

Important note on polyQ assay: the polyQ repeat assay shows heterozygous mice maintain a stable 141 polyQ repeat length.

This Huntington's disease mouse model is available by way of a collaborative effort between CHDI Foundation, Taconic Artemis and The Jackson Laboratory.

Development

A targeting vector was designed to replace a partial promoter region and exon 1 of the mouse huntingtin locus (Htt; HD or Hdh) with a CAGGS promoter sequence and cDNA encoding a mutant human HTT gene (145Q [see polyQ assay note below]) truncated at position ~aa1000 (Difiglia site). Mice were sent to the CHDI Foundation colony as Stock No. 370266 [CHDI-81003009]. The colony is reported to be on the C57BL/6J genetic background. In 2015, animals were sent from the CHDI Foundation colony to The Jackson Laboratory Repository, from which B6.Hd(HD_1000aa) KI heterozygotes are available as Stock No. 027435.

Important note on polyQ assay: the polyQ repeat assay shows heterozygous mice maintain a stable 141 polyQ repeat length.

In 2016, a 32 SNP (single nucleotide polymorphism) panel analysis, with 27 markers covering all 19 chromosomes and the X chromosome, as well as 5 markers that distinguish between the C57BL/6J and C57BL/6N substrains, was performed on the first generation rederived living colony at The Jackson Laboratory Repository. While the 27 markers throughout the genome were all found to be C57BL/6 allele-type, 4 of the 5 markers that determine C57BL/6J from C57BL/6N were found to be segregating in the cohort of mice tested (chromosomes 8 [~15.2 Mbp], 13 [~41.0 Mbp], 15 [~57.6 Mbp] and 19 [~49.9 Mbp]); individual mice had 2-3 markers segregating. These data suggest that the mice sent to The Jackson Laboratory Repository colony were on a mixed C57BL/6J;C57BL/6N genetic background.

Control Suggestions

Wild-type from the colony
000664 C57BL/6J

Additional Information

Considerations for Choosing Controls

Genetics

Htt^tm1(HTT)Arte

Allele Symbol: Htt^tm1(HTT)Arte

Allele Name	targeted mutation 1, TaconicArtemis
Allele Type	Targeted (Null/Knockout, Inserted expressed sequence)
Allele Synonym(s)
Gene Symbol and Name	Htt, huntingtin
Gene Synonym(s)
Strain of Origin	Not Specified
Chromosome	5
Molecular Note	A cDNA construct carrying mutant Huntington gene (145Q) truncated at position ~aa1000 (Difiglia site) under the control of CAGGS promoter was targeted into endogenous mouse Htt locus. Endogenous Htt gene expression was disrupted due to deletion of partial promoter region and exon 1.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Neurobiology Research
- Behavioral and Learning Defects
- Neurodevelopmental Defects
- Neuromuscular defects
- Huntington's disease
- Ataxia (Movement) Defects
Research Tools
- Neurobiology Research

Mammalian Phenotype Terms by Genotype

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

Genotype: Htt^tm1(HTT)Arte/Htt⁺
Not Specified

mammalian phenotype

no phenotypic analysis

References

Additional - Htt^tm1(HTT)Arte related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Standard PCR:Laragen
- Genotyping resources and troubleshooting
Breeding Considerations

When maintaining a live colony, heterozygous mice may be bred to wildtype mice from the colony or to C57BL/6J inbred mice (Stock No. 000664). To date (August 2015), it has not been attempted to make this strain homozygous.
- Additional Breeding and Husbandry Support
Mating System
- Heterozygote x Wild-type
- Wild-type x Heterozygote
Citation
When using the B6.Hd(HD_1000aa) KI ; HQ0022-HD 1000(aa)TT ; CHDI-81003009 mouse strain in a publication, please cite the originating article(s) and include JAX stock #027435 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
	Heterozygous or wildtype for Htt<tm1(HTT)Arte>

Related Products and Services

Frozen Mouse Embryo	B6.Cg-Htt<tm1(HTT)Arte>/ChdiJ Frozen Embryo	$2595.00
Frozen Mouse Embryo	B6.Cg-Htt<tm1(HTT)Arte>/ChdiJ Frozen Embryo	$2595.00
Frozen Mouse Embryo	B6.Cg-Htt<tm1(HTT)Arte>/ChdiJ Frozen Embryo	$3373.50
Frozen Mouse Embryo	B6.Cg-Htt<tm1(HTT)Arte>/ChdiJ Frozen Embryo	$3373.50

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.

Terms Of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

Also Known As:B6.Hd(HD_1000aa) KI ; HQ0022-HD 1000(aa)TT ; CHDI-81003009

Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Htttm1(HTT)Arte

Allele Symbol: Htttm1(HTT)Arte

Disease Terms

Research Areas By Phenotype

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

Mammalian Phenotype Terms by Genotype

Genotype: Htttm1(HTT)Arte/Htt+Not Specified

mammalian phenotype

References

Additional - Htttm1(HTT)Arte related

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

Licensing Information

Htt^tm1(HTT)Arte

Allele Symbol: Htt^tm1(HTT)Arte

Genotype: Htt^tm1(HTT)Arte/Htt⁺
Not Specified

Additional - Htt^tm1(HTT)Arte related