Mouse Genome Informatics
hm1
    Pax6132-14Neu/Pax6132-14Neu
C3.Cg-Pax6132-14Neu
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Pax6132-14Neu/Pax6+ and Pax6132-14Neu/Pax6132-14Neu histological adult eye sections.

vision/eye
• the corneal stroma is pierced centrally by a strand of epithelial cells continuous with the corneal epithelium
• the anterior chamber is absent and the small globe is filled with extensively folded but well differentiated retina
• the lens is severely malformed, consisting of small clusters of round fiber-like cells and irregular strands of lens epithelium and capsule
• microphthalmic eyes show a persistent connection between the lens and the cornea
• in some eyes, colobomata occurs at the posterior pole
• the vitreous body is absent


Mouse Genome Informatics
hm2
    Pax6132-14Neu/Pax6132-14Neu
involves: 101 * C3H
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• complete penetrance


Mouse Genome Informatics
ht3
    Pax6132-14Neu/Pax6+
C3.Cg-Pax6132-14Neu
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Pax6132-14Neu/Pax6+ and Pax6132-14Neu/Pax6132-14Neu histological adult eye sections.

vision/eye
• fusion of the lens to the cornea is associated with a defect in the corneal stroma and endothelium, which is filled with epithelial cells continuous with those covering the conically projecting anterior surface of the lens
• defect in the corneal stroma, which is filled with epithelial cells
• in the lens, a plaque of multilayered epithelial cells and degenerated cortical fibers underlay the fusion point
• the anterior pole of the lens is fused to the cornea
• failure of lens vesicle to separate from ectoderm
• eyes in which the lens and cornea are separated display an anterior polar cataract and central corneal defect involving the stroma, Descemet's membrane, and endothelium

Mouse Models of Human Disease
OMIM IDRef(s)
Anterior Segment Mesenchymal Dysgenesis; ASMD 107250 J:40665


Mouse Genome Informatics
ht4
    Pax6132-14Neu/Pax6+
involves: 101 * C3H
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
vision/eye
• the remnants of the pupillary membrane connect the opacity with the cornea
• failure of lens vesicle to separate from ectoderm
• pyramidal opacity at anterior pole of lens; uni- or bilateral and incomplete penetrance
• the opacity frequently protrudes into the anterior chamber and attaches to the cornea