(Sample) specimen with known storage state/frozen specimen
(Factor value) GENOTYPE/wild type genotype
(Sample) disease/spinocerebellar ataxia type 17
Transcription profiles were obtained for 2-month old mice. Three lines (WT, TBP-13Q12, and TBP105Q) were used in these experiments. Wild-type and 13Q mice are normal. The 13Q mice overexpress the normal protein on the RNA but not protein level and do not show a phenotype. The 105Q mice express a mutant version of the protein TBP and faithfully model the disease SCA17 (spinocerebellar ataxia-17, huntington disease-like 4, HDL4). The constructs containing mixed CAG/CAA trinucleotide repeats (and encoding polyglutamine tracts) of variable length were made using a previously described method (Michalik A et al., Biotechniques, 2001). Briefly, synthetic CAG/CAA oligonucleotides were subcloned into a cDNA construct of the normal mouse (13 CAG/CAA) TBP gene. Because of the mixed nature of the repeat, its length is stable in mitotic and meiotic transmission.