Phenotypes Associated with This Genotype

Genotype
MGI:2175208

• Allelic Composition: Pax6^Sey-Neu/Pax6⁺
• Genetic Background: involves: 102 * C3H

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

vision/eye

iris hypoplasia ( J:83026 )

• at E18.5, the iris is hypoplastic and the iridocorneal angle is obliterated by cells

abnormal cornea morphology ( J:83026 )

• 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

cornea vascularization ( J:83026 , J:114973 )

• 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)

anterior iris synechia ( J:83026 )

• 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

abnormal Bowman membrane morphology ( J:83026 )

• at P14, Bowman's layer is interrupted in some areas

abnormal cornea epithelium morphology ( J:83791 )

• unlike in wild-type mice, basal cells are more rounded and the cell layers are not packed tightly

• no goblet cells are observed

• adhesion between cells in the suprabasal middle and superficial layers is disrupted

decreased cornea epithelium thickness ( J:83026 , J:83791 , J:114973 )

• 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)

• 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)

abnormal cornea stroma morphology ( J:83026 , 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)

abnormal cornea anterior stroma morphology ( J:83026 )

• 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

abnormal eye anterior chamber morphology ( J:83026 )

• 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

abnormal lens vesicle development ( J:83026 )

• unlike in wild-type mice, the lens vesicle remains attached to the surface of the corneal epithelium by a persistent lens stalk

microphthalmia ( J:83026 )

• eye weight is decreased (16.0+/-0.3 mg compared to 21.4+/-0.3 mg in wild-type mice)

cardiovascular system

cornea vascularization ( J:83026 , J:114973 )

• 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		DO ID	OMIM ID(s)	Ref(s)
aniridia		DOID:12271	OMIM:PS106210	J:83026