This strain carries 111 CAG repeat units in the first exon of the endogenous Htt gene. Huntington's-like pathology is seen in the striatum, including nuclear localization of the protein, N-terminal inclusions, and insoluble aggregate formation. Instability of the length of the CAG repeat between generations is seen. Expression of the phenotype occurs earlier than in Htttm4, (Stock No. 003455).
A targeting vector containing neomycin resistance and herpes simplex virus thymidine kinase genes and 111 CAG repeat units was used to disrupt exon 1. The construct was electroporated into 129 derived R1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into recipient blastocysts. The resulting chimeric male animals were crossed to CD1 mice.
|Allele Name||targeted mutation 5, Marcy E MacDonald|
|Allele Type||Targeted (Humanized sequence)|
|Gene Symbol and Name||Htt, huntingtin|
|Promoter||Htt, huntingtin, mouse, laboratory|
|Strain of Origin||(129X1/SvJ x 129S1/Sv)F1-Kitl+|
|Molecular Note||This allele carries 109 CAG repeat units, with 111 glutamines, in the first exon of the endogenous gene. It is a derivative of Htttm8 in which the neo cassette has been removed via cre-mediated recombination.|
|Mutations Made By|| |
Dr. Marcy MacDonald, Massachusetts General Hospital
When maintaining a live colony, these mice are bred as homozygotes. Coat color expected from breeding:Agouti, or Albino.
When using the HdhQ111 mouse strain in a publication, please cite the originating article(s) and include JAX stock #003456 in your Materials and Methods section.