Stock No. 027430 was formerly associated with CHDI Foundation colony Stock No. 370332 [CHDI-81002017].

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_D586(TT);HQ-016 targeted mutation has the CMV early enhancer/chicken beta actin promoter driving expression of the D586 HTT transgene (human HTT fragment encoding the first 586 amino acids with 145 mixed CAA-CAG repeats [see polyQ assay note below]) from the mouse Gt(ROSA)26Sor locus. 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: over several generations, the polyQ repeat assay shows heterozygous mice have maintained 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.

These mice are part of a series expressing different human HTT amino acid length fragments from Gt(ROSA)26Sor. All are reported to have a stable array of 145 mixed CAA-CAG repeats (see polyQ assay note above) and are on the C57BL/6 genetic background. Together, they are useful in studying comparable patterns and levels of HTT expression. The series includes:
 HD_N171(TT);HQ-021 mice are Stock No. <a href="https://www.jax.org/strain/027426.html">027426</a>
 HD_A463(TT);HQ-020 mice are Stock No. <a href="https://www.jax.org/strain/027427.html">027427</a>
 HD_DS536(TT);HQ-019 mice are Stock No. <a href="https://www.jax.org/strain/027428.html">027428</a>
 HD_D552(TT);HQ-017 mice are Stock No. <a href="https://www.jax.org/strain/027429.html">027429</a>
 HD_D586(TT);HQ-016 mice are Stock No. <a href="https://www.jax.org/strain/027430.html">027430</a>
 HD_1000aa(TT);HQ-022 mice are Stock No. <a href="https://www.jax.org/strain/027431.html">027431</a>

The HD_D586(TT);HQ-016 targeted mutation has the D586 HTT transgene (human huntingtin fragment encoding the first 586 amino acids with 145 mixed CAA-CAG repeats) inserted into the mouse Gt(ROSA)26Sor locus. The polyQ repeat assay shows heterozygous mice over several generations have a stable 141 polyQ repeat. These mice are part of a series expressing different human HTT amino acid length fragments, and may be useful for studying comparable patterns and levels of HTT expression in Huntington's disease.

Typically mice are recovered in 12-16 weeks. Contact Customer Service to place an order or for more information.

<a target="_blank" href="https://www.jax.org/jax-mice-and-services/customer-support" rel="noreferrer">Contact Customer Service</a> for more information.