Phenotypes Associated with This Genotype

Genotype
MGI:2170872

• Allelic Composition: Pax6^Sey/Pax6⁺
• Genetic Background: Not Specified

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Development of the Pax6^Sey/Pax6⁺ lens

vision/eye

abnormal optic nerve morphology ( J:22316 )

• myelinated nerve counts lower than in controls

• cross sectional area in males significantly smaller than in controls

abnormal anterior eye segment morphology ( J:71087 )

• 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

abnormal cornea epithelium morphology ( J:5093 )

• hypertrophy

abnormal eye anterior chamber morphology ( J:71087 )

• reduced anterior chamber, with multiple sites of adhesion between the anterior surface of the lens and the corneal endothelium

abnormal lens morphology ( J:71087 )

• the lens shows evidence of degeneration

abnormal lens development ( J:71087 )

• the lens is developmentally delayed

abnormal lens vesicle development ( J:71087 )

• persistence of the lens vesicular cavity

abnormal lens epithelium morphology ( J:5093 )

• hypertrophy

abnormal lens fiber morphology ( J:71087 )

• extensive vacuolation of the primary lens fibers

delayed eyelid fusion ( J:71087 )

• delayed fusion of the eyelids

microphthalmia ( J:71087 , J:12101 )

• microphthalmia, but highly variable from almost unnoticeable to very small (J:12101)

• never anophthalmic (J:12101)

abnormal retina morphology ( J:5093 )

abnormal retina pigment epithelium morphology ( J:5093 )

• frequently necrotic in adults

abnormal retina photoreceptor layer morphology ( J:5093 )

• sensory cells in only 15% of eyes

growth/size/body

decreased body size ( J:12101 )

• reduced size

nervous system

abnormal optic nerve morphology ( J:22316 )

• myelinated nerve counts lower than in controls

• cross sectional area in males significantly smaller than in controls

pigmentation

abnormal retina pigment epithelium morphology ( J:5093 )

• frequently necrotic in adults