Fig. 6. Comparison of ocular malformations in Xaf1o and Xaf2o compound mutants. Frontal sections through the eye region of WT and mutant fetuses at E14.5 (a-d) and E18.5 (e-k). (h-k) Note that Xaf1o/A(ß or ) and Xaf2o/A(ß or ) mutants share the same spectrum of ocular defects, although these are systematically more severe in Xaf2o compound mutants. For example, the size of the conjunctival sac (J) and cornea (C) is only slightly reduced in Xaf1o/Aß and Xaf1o/A mutants (compare e,j,h) but markedly decreased in Xaf2o/Aß mutants (i), and absent in Xaf2o/A mutants (k). Likewise, the stroma of the iris (I), the anterior chamber (A) and the secondary vitreous body (SV) are present in Xaf1o/Aß and Xaf1o/A mutants, but not in their Xaf2o counterparts. Note also that in some mutants at E18.5, the relative sizes of the ventral and dorsal retina is not possible to assess due the existence of retinal folds. A, anterior chamber; C, cornea; D, dorsal retina; E, eyelids; I, iris stroma; J, conjuntival sac; L, lens; M, mesenchyme replacing the eyelids and cornea; N, neural retina; R, persistant hyperplastic primary vitreous; RP, retinal pigment epithelium; SC, sclera; SV, secondary vitreous body. The large arrow points to the optic nerve exit point. The green arrowheads delimit colobomas of the optic disc. The asterisks indicate artefactual detachment of the neural retina from the retinal pigment epithelium occurring during tissue processing. Scale bar in k: 200 µm (a-d); 300 µm (e,h-k); 40 µm (f,g).

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