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. 2015 Oct 22;56(11):6823–6831. doi: 10.1167/iovs.15-17527

Figure 1.

Figure 1

Col4a1 mutation leads to variable ASD depending on genetic context. Col4a1+/Δex41 mice maintained on a C57BL/6J background were crossed for a single generation to CAST/EiJ (called CASTB6F1 and shown in [A–D]) or to 129S6/SvEvTac (called 129B6F1 and shown in [E–L]) and analyzed by slit-lamp biomicroscopy. On the CASTB6F1 background, ASD in Col4a1+/Δex41 mice was uniformly suppressed and the vast majority of Col4a1+/Δex41 eyes had grossly normal appearances ([C] compared with [A]) with the exceptions of mildly enlarged anterior chambers (arrowheads in [D] compared with [B]). Col4a1+/Δex41 mice on the 129B6F1 background had ASD with variable severity (E–L). Among the eyes of 5-month-old mutant mice we observed enlarged and tortuous iris vasculature (21/24 eyes), cataracts (4/27 eyes), enlarged anterior chambers (27/29 eyes; arrowheads in [F, J, L]), persistent pupillary membranes (25/26 eyes) and pigment on the lens (17/27 eyes). Note: sample sizes vary because not all phenotypes could be assessed in all eyes. Similar subphenotypes were also present in the 22-month-old cohort where Col4a1+/Δex41 mice had abnormal iris vasculature (18/18 eyes), cataracts (3/21 eyes), enlarged anterior chambers (20/20 eyes), persistent pupillary membranes (13/21 eyes), and pigment on the lens (11/21 eyes). Frequency of severely enlargement of anterior chamber increases with age suggesting age-related IOP elevation.