Phenotypes Associated with This Genotype

Genotype
MGI:2175026

• Allelic Composition: Foxe3^dyl/Foxe3^dyl
• Genetic Background: BALB/cLiA-Foxe3^dyl

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

vision/eye

abnormal pupillary reflex ( J:6131 )

• pupillary reaction is absent

abnormal iridocorneal angle ( J:119940 )

• filtration angle is severely malformed and ruptures in the tissue frequently occur, while in most sections, it is missing

abnormal canal of Schlemm morphology ( J:119940 )

absent trabecular meshwork ( J:119940 )

• filtration angle is without a trabecular meshwork

abnormal ciliary body morphology ( J:119940 )

• iris and ciliary body are replaced by single structure resembling a stunted iris

• zonular fibers reach up between posterior surface and lens

• histologically, the structure present does not resemble iris or ciliary body, with stromal and epithelial parts are compact, and structure lacks secretory apparatus, fenestrated capillaries, and musculature of the normal ciliary body

abnormal iris morphology ( J:6131 , J:119940 )

• iris shows adhesive attachment with the lens (J:6131)

• iris and ciliary body are replaced by single structure resembling a stunted iris (J:119940)

• anterior surface of structure is made up of stromal cells; histologically it does not resemble iris or ciliary body, with stromal and epithelial parts are compact and homogeneous lacking muscle cells, blood vessels, nerves and channels in extracellular space like a normal iris (J:119940)

small pupil ( J:6131 )

abnormal cornea morphology ( J:6131 , J:7448 , J:76605 , J:119940 )

• the cornea is not well defined at E13 (J:7448)

• about 40% exhibit uni- or bilateral corneal irregularities that include depressions or blisters in the cornea (J:76605)

• exhibit a persistent central stalk-like connection between the lens and cornea; stalk consists of epithelial cells continuous with the subcapsular lens epithelium (J:76605)

• the persistent stalk connection distorts the curvature of the cornea and the anterior face of the lens (J:76605)

• stratification of cornea is less pronounced than in wild-type (J:119940)

cornea vascularization ( J:6131 )

• seen in older mutants

abnormal cornea endothelium morphology ( J:119940 )

• endothelium does not develop normally

• inner corneal surface is covered by crowded and disorganized layer of cells resembling stromal cells of fused iris/ciliary body

• there is a high melanosome content in corneal endothelium; these often adhere to the 'iris/ciliary body stroma'

• mutants show high levels of N-cadherin in all mesenchyme facing the anterior chamber, while in wild-type it is seen in iris epithelium in minute amounts

abnormal cornea epithelium morphology ( J:6131 )

• the corneal epithelium is interrupted in the region where the persistent connection between the lens and the corneal epithelium occurs

abnormal cornea stroma morphology ( J:76605 , J:119940 )

• corneal swelling associated with a lax, cavernous structure of the stroma is a source of leucoma (J:76605)

• mild dysplasia of the corneal stroma (J:76605)

• stroma shows a reduction in number and density of collagen fibers (J:119940)

cornea opacity ( J:6131 , J:76605 )

• varying degrees of corneal opacity, ranging from a few tiny spots in the papillary area to a completely opaque central cornea (J:6131)

• minor central leucoma (J:76605)

abnormal lens morphology ( J:6131 , J:7448 )

• lens is irregularly shaped (J:6131)

• exhibit a persistent connection between the lens and the corneal epithelium (J:6131)

• at E16, part of the lens protrudes to the exterior and eventually materials from the lens interior are expelled (J:6131)

• extrusion of lens crystalline materials through the stalk, resulting in a reduced and malformed lens (J:7448)

corneal-lenticular stalk ( J:76605 )

• exhibit a persistent central stalk-like connection between the lens and cornea

abnormal lens development ( J:7448 )

• the lens fails to separate from the cranial ectoderm at E12

fused cornea and lens ( J:59880 , J:76605 , J:119940 )

• lens vesicle fails to separate from the ectoderm, causing a fusion between the lens and cornea (J:59880)

• in some mutants, the anterior surface of the lens and the posterior surface of the cornea adhere directly to each other without a connecting stalk (J:76605)

• mice show fusion between cornea and small cataractic lens resulting from failure of lens vesicle to close and separate from surface ectoderm (J:119940)

• in adults, connection may be broken, leaving on central part of external corneal surface a deposit of tissue derived from interior of lens vesicle (J:119940)

abnormal lens vesicle development ( J:6131 , J:7448 , J:59880 , J:119940 )

• the lens vesicle fails to separate from the ectoderm at E10 (J:6131)

• at E11, the margin of the lens vesicle pit remains open (J:7448)

• the lens vesicle fails to close which in some cases leads to lens material being ejected to the exterior (J:59880)

• reduction in lens vesicle tissue volume is similar to that observed in Foxe3^dyl homozygotes, while in Foxe3-heterozygotes volume reduction is intermediate between homozygotes and wild-type (J:119940)

abnormal lens epithelium morphology ( J:59880 )

• the lens epithelial layer forms during lens vesicle polarization but then gradually disappears and is absent by the time of birth

• the posterior cells of the epithelium fail to divide and show signs of premature differentiation and the most anterior cells are eliminated by apoptosis

abnormal lens fiber morphology ( J:6131 , J:7448 , J:59880 )

• some fibrous structures are found in the lens but they are very disorganized and interspersed by large irregular vacuoles (J:6131)

• in the E13 lens, the cortical fibers appear less elongated and less regularly aligned (J:7448)

• appearance of vacuoles in the lens nucleus and cortex marks the beginning of degeneration of fibers (J:7448)

• the lens epithelium fails to proliferate leading to a reduction in the number of secondary lens fibers (J:59880)

cataract ( J:59880 , J:76605 )

• clusters of disorganized cells underneath the lens capsule may cause local cataracts (J:76605)

developmental cataract ( J:6131 , J:7448 )

• lens appears cataractous at E16 (J:6131)

• in the E16 lens, vacuoles appear all over the cortex and nucleus as a result of cataractous degeneration (J:7448)

small lens ( J:6131 , J:7448 , J:59880 )

• smaller lenses are seen by E13 (J:6131)

microphthalmia ( J:6131 )

• small size of the eye varies between individuals and also sometimes between the two eyes of the same individual

behavior/neurological

abnormal pupillary reflex ( J:6131 )

• pupillary reaction is absent

cardiovascular system

cornea vascularization ( J:6131 )

• seen in older mutants

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital aphakia		DOID:11367	OMIM:610256	J:59880 , J:76605