Rs. Smith et al., Lens epithelial proliferation cataract in segmental trisomy involving mouse Chromosomes 4 and 17, MAMM GENOME, 10(2), 1999, pp. 102-106
A dominant induced mutation in the mouse, tightly associated with a recipro
cal chromosomal translocation between Chrs 4 and 17, causes abnormal head t
ossing and circling behavior (the translocation induced circling mutation.
Tim). Affected mice develop an unusual anterior subcapsular cataract that a
ppears after birth and is progressive. The most likely explanation for the
phenotypic observations is that the translocation breakpoint disrupted a ge
ne or its regulation. Although the Mos protooncogene is located close to th
e translocation breakpoint and transgenic mice that overexpress Mos demonst
rate cataracts and circling behavior, there were no gross changes in the Mo
s gene or in its level of expression. The morphological changes observed in
the lens resemble those seen in some human congenital cataract syndromes.