Mouse Genome Informatics
ht
    Pax6Sey/Pax6+
Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Development of the Pax6Sey/Pax6+ lens

vision/eye
• myelinated nerve counts lower than in controls
• cross sectional area in males significantly smaller than in controls
• display a persistent plug of ectoderm linking the corneal and anterior lens epithelia at E16.6
• the lens-corneal bridge exhibits high levels of apoptosis but normal proliferation
• reduced anterior chamber, with multiple sites of adhesion between the anterior surface of the lens and the corneal endothelium
• the lens shows evidence of degeneration
• the lens is developmentally delayed
• persistence of the lens vesicular cavity
• extensive vacuolation of the primary lens fibers
• delayed fusion of the eyelids
• microphthalmia, but highly variable from almost unnoticeable to very small (J:12101)
• never anophthalmic (J:12101)
• frequently necrotic in adults
• sensory cells in only 15% of eyes

growth/size
• reduced size

nervous system
• myelinated nerve counts lower than in controls
• cross sectional area in males significantly smaller than in controls

pigmentation
• frequently necrotic in adults

Mouse Models of Human Disease
OMIM IDRef(s)
Aniridia; AN 106210 J:22316
Peters Anomaly 604229 J:22316