Basic study for establishment of the chromosome deletion model mouse

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To gain insight into the association of a chromosome deletion with a fragile site localized to the p (CCG) repeat which expand with transmission and to develop an animal model of this disorder, we have generated transgenic mice carrying p (CCG) repeats in the transgene. Uninterrupted 30-, 60-, and 100-repeats p (CCG) DNA fragment were amplified by PCR using CCG and CGG trinucleotide repeat oligomers (40repeat) as both primers and template. Constructs were prepared by ligation of these synthesized p (CCG) DNA fragments into the 5'-untranslated region of LacZ high expression vector composed of cytomegalovirus enhancer, beta-actin promoter, beta-globin intron, LacZ and polyA signal sequence. Regardless of the number of repeat used, these transgenes containing the CCG repeat in transgenic mice showed on change in repeat length with transmission. Neither the chromosome deletion nor phenotypic effects of the transgenes were observed in transgenic mice. Therefore, we may need to consider the use of longer CCG repeat in the constructs or factors other than trinucleotide repeat length alone to explain CCG instability and create a model mouse.