These BAC SA transgenic mice express a mutant human HTT (huntingtin) gene containing nucleotide substitutions that result in amino acid substitutions of alanine for serine at positions 13 and 16, as well as a loxP-flanked fragment containing 97 mixed CAA-CAG repeats. The amino acid substitutions render the NT17 domain phosphoresistant (SA). Immunoprecipitation analysis confirmed that the mutant HTT protein is not phosphorylated. The mutant protein is expressed at a level higher than levels detected in the BACHD-L transgenic strain (STOCK No. <a href="https://www.jax.org/strain/017487">017487</a>). At 2 months of age, BAC SA transgenic mice exhibit motor deficits, which progress with age. At 12 months of age, the mutant mice display decreased forebrain weight, anxiety and depression-like behavior and progressive protein aggregate formation in cortex and striatum. Mice that are hemizygous for the targeted mutation are viable, fertile and normal in size. The Donating Investigator has not attempted to make the strain homozygous. When bred to Htt deficient mice, the transgene rescues the null embryonic lethal phenotype.

BAC SA transgenic mice express a mutant human HTT (huntingtin) gene that produces a protein that is phosphoresistant at the NT17 domain and has a 97 polyQ repeat expansion.

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