Histochemical analysis of extracellular matrix material in embryonic trisomy 1 mouse eye

Trisomic animals produced from mice doubly heterozygous for Robertsonian translocation chromosomes [Rb(1.3)/Rb(1.10)]consistently show eye defects (e.g., aphakia, microphakia, and retention of lens stalk). To determine if changes in distribution or composition of extracellular matrix material may be a factor in development of these defects, eye structures of trisomy (ts) 1 embryos and normal littermates were studied histochemically using the following methods: Alcian blue 8GX, pH 2.5; periodic acid-Schiff (PAS), Alcian blue/PAS combined; high-iron diamine (HID), and HID/Alcian blue combined. Eye development was divided into stages to account for the known delay in ts 1 mouse development. Differences were found in staining patterns as early as stage 1. In later stages, the most consistent difference was an increased period of contact between lens and optic cup due to retardation of interface matrix dissolution between these rudiments in ts 1 embryos. Eyes in which this occurred had abnormally shaped lenses. Overall, the ts 1 optic cup appeared to have fewer staining abnormalities and dysmorphology than did the lens or interface matrix. Triplication of a chromosome may indirectly alter temporal and spatial organization of extracellular matrix through action on cells responsible for the production of this material. Possible mechanisms of action are discussed.