Mouse Genome Informatics
ht
    Pax6Sey-Neu/Pax6+
involves: 102 * C3H
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
vision/eye
• at E18.5, the iris is hypoplastic and the iridocorneal angle is obliterated by cells
• the lens stalk persists and forms an epithelial plug in the cornea
• corneal degeneration worsens with age with older mice exhibiting more prominent subepithelial pannus and more goblet cells than younger mice
• many mice develop vascularized cornea or ones that contain cellular infiltrates unlike in wild-type mice (J:83026)
• mice exhibited spontaneous corneal vascularization (J:114973)
• corneal injection of sflt-1 (secreted isoform of the cell surface receptor membrane-bound Flt1) protein reduces the area of vascularization compared to untreated mutant mice (J:114973)
• keratolenticular adhesions are present in the central cornea and between the anterior iris stroma and trabecullar meshwork between the iris stroma and the peripheral cornea, and between extensions of abnormal iris processes and the cornea
• at P14, Bowman's layer is interrupted in some areas
• unlike in wild-type mice, the lens vesicle remains attached to the surface of the corneal epithelium by a persistent lens stalk (J:83026)
• at P14, the corneal epithelium is thinner (2 to 3 cell layers thick compared to 3 to 4 cell layers thick in wild-type mice) (J:83026)
• reduction in cell layers is apparent at P14 and P21 (J:83791)
• unlike in wild-type mice, basal cells are more rounded and the cell layers are not packed tightly (J:83791)
• no goblet cells are observed (J:83791)
• the corneal epithelium is 1 to 7 cell layers thick instead of 8 to 10 as in wild-type mice (J:83791)
• however, apoptosis rates are normal (J:83791)
• adhesion between cells in the suprabasal middle and superficial layers is disrupted (J:83791)
• at E16.5 and E18.5, the stroma appears thicker and parallel arrangement is distorted toward the center of the cornea (J:83026)
• the stroma exhibits varied thickness and a general disorganizeation with large aggregates of laminn in the anterior region (J:83791)
• hypercellular at fetal stages
• the anterior stroma sometimes appears edematous and in 2 of 4 mice the formation of pannus occurs in the superficial stroma
• by E14.5, the anterior chamber has not formed unlike in wild-type mice
• at E16.5, the center of the anterior chamber is interrupted by a persistent lens stalk
• unlike in wild-type mice, the lens vesicle remains attached to the surface of the corneal epithelium by a persistent lens stalk
• eye weight is decreased (16.0+/-0.3 mg compared to 21.4+/-0.3 mg in wild-type mice)

cardiovascular system
• many mice develop vascularized cornea or ones that contain cellular infiltrates unlike in wild-type mice (J:83026)
• mice exhibited spontaneous corneal vascularization (J:114973)
• corneal injection of sflt-1 (secreted isoform of the cell surface receptor membrane-bound Flt1) protein reduces the area of vascularization compared to untreated mutant mice (J:114973)

Mouse Models of Human Disease
OMIM IDRef(s)
Aniridia; AN 106210 J:83026
Keratitis, Hereditary 148190 J:83026
Peters Anomaly 604229 J:12101