MGI:2442621Mice homozygous for a deletion in exon 2 are embryonic lethal while heterozygotes show severe ocular malformations, including persistence of fetal vasculature, chorioretinal atrophy, corneal opacity, cataract and optic nerve anomaly. Mice with a heterozygous or homozygous deletion in exon 6 exhibit milder eye phenotypes at a lower incidence.