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.
Dr. David Howland, CHDI Foundation
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
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Targeted (Null/Knockout, Inserted expressed sequence) | Htt | huntingtin |
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.
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.
Allele Name | targeted mutation 1, TaconicArtemis |
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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. |
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.
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.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous or wildtype for Htt<tm1(HTT)Arte> |
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 |
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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. 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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