BACHD-L transgenic mice express a mutant human HTT (huntingtin) gene that produces a pathogenic protein with a 97 polyQ repeat expansion.
X. William Yang, University of California Los AngelesRead More +
These BACHD-L transgenic mice express a mutant human HTT gene containing 97 mixed CAA-CAG repeats. Mice homozygous for the transgenic insert are viable, fertile, and normal in size. Mutant HTT protein is detected in cortex, striatum, and cerebellum by Western blot analysis. qPCR results indicated that there are tandem integrations of approximately 5 copies of the transgene. The 97 CAA-CAG repeat length is stable in maternal and paternal germline transmission, as well as in brain tissue from 12 month old transgenic mice. Onset of progressive motor deficits is 2 months of age. Transgenic mice weigh 8-14% more than wildtype controls. In transgenic mice 12 months of age, a few mutant HTT protein aggregates are observed in the cortical neuropil, with tiny aggregates in the striatum, which is similar to the pattern seen in adult onset Huntington's Disease.
The 240 kb human bacterial artificial chromosome (BAC) RP11-866L6 containing the entire 170kb human HTT gene, and approximately 20 kbp of 5' and 50 kbp of 3' flanking sequences, was modified by replacing exon 1 with a loxP-flanked fragment containing 97 mixed CAA-CAG repeats. The transgenic construct was microinjected into the pronucleus of FVB/N fertilized eggs. Founder line L was subsequently established and maintained on the FVB/NJ background. Upon arrival at The Jackson Laboratory, the mice were crossed to FVB/NJ (Stock No. 001800) at least once to establish the colony.
|Expressed Gene||HTT, huntingtin, human|
|Site of Expression|
|Allele Name||transgene insertion L, X William Yang|
|Allele Type||Transgenic (Humanized sequence, Inserted expressed sequence)|
|Gene Symbol and Name||Tg(HTT*97Q)LXwy, transgene insertion L, X William Yang|
|Promoter||HTT, huntingtin, human|
|Expressed Gene||HTT, huntingtin, human|
|Strain of Origin||FVB|
|Molecular Note||The 240 kb human bacterial artificial chromosome BAC(RP11-866L6), containing the entire 170 kb human Huntingtin (htt) genomic locus and approximately 20 kbp of 5' and 50 kbp of 3' flanking sequences, was modified by replacing the human htt exon 1 with a loxP-flanked human mutant htt exon 1 sequence (containing 97 mixed CAA-CAG repeats encoding a continuous polyglutamine (polyQ) stretch). Two lines were created (line I and L) that exhibit the same phenotype.|
|Mutations Made By|| |
X. William Yang, University of California Los Angeles
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