In mouse, Mab21l2 ocular expression was reported in the dorsal optic vesicle and head surface ectoderm in E8.5–9.5 embryos and the neural retina, optic nerve and RPE at E12 [41,42]; homozygous Mab21l2 knockout mice demonstrated a rudimentary retina and aphakia due to improper invagination of the optic vesicle as well as ventral body wall defects, improper formation of the heart and liver, and embryonic lethality [41,42]. This evidence concerns the gene MAB21L2 and congenital primary aphakia.