A chromosome marker for the early detection of mouse embryos carrying the neural tube defect mutation splotch.

Abstract

A major problem in the study of neural tube defects caused by the splotch (Sp) gene in the mouse has been the identification of gene carriers or potentially affected embryos at an early stage of development, since the gene's effects become visible only late in gestation or after birth. To aid in the identification of Sp carriers, we have developed a technique using a Robertsonian translocation as a marker for this gene. The accuracy of identification is reduced by crossing-over between the Sp locus and the centromere but, because of crossover suppression in the particular cross used, there was only 23.2% recombination compared with the known map distance of 36%. Paternal age had no effect on the frequency of recombination, but individual males differed significantly in the degree of crossover suppression.