TRANSGENIC MOUSE MODEL AND METHOD FOR EVALUATING GLUCOCEREBROSIDASE DEFICIENCIES

摘要

A recombinant mouse model in which the genome of the mouse is modified by introduction of paired recombinase recognition sites integrated in the glucocerebrosidase gene in the genome of the transgenic mouse is useful in assessing glucerebrosidase deficiency. The recombinase recognition sites flank a portion of the glucocerebrosidase gene including as least one exon of the glucocerebrosidase gene and are oriented such that the portion of the glucocerebrosidase gene is excised in the presence of a recombinase that recognizes the paired recombinase recognition sites. Upon exposure to the appropriate recombinase, the mouse produces defective glucocerebrosidase in a manner which can be controlled in a temporal, spatial or cell-type- specific manner.