This strain carries 92 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 this phenotype is delayed relative to Htttm5 (Stock No. 003456).
In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for the strain above. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available.
|Allele Name||targeted mutation 4, Marcy E MacDonald|
|Allele Type||Targeted (Humanized sequence)|
|Allele Synonym(s)||HdhQ92; Hdhtm4Mem|
|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 90 CAG repeat units, with 92 glutamines, in the first exon of the endogenous gene.|
|Mutations Made By|| |
Dr. Marcy MacDonald, Massachusetts General Hospital
Homozygotes are viable and fertile. When maintaining a live colony, heterozygous mice may be bred together, to wildtype mice from the colony or to C57BL/6J inbred mice (Stock No. 000664). Alternatively, homozygous mice may be bred together.
When using the HdhQ92 KI mouse strain in a publication, please cite the originating article(s) and include JAX stock #003597 in your Materials and Methods section.