Phenotypes for H2az2 Tfap2b MGI:6152756 MGI Mouse

abnormal eye morphology ( J:234170 )

• presence of a severe and fully penetrant closed angle phenotype that develops prior to 2 months of age indicating glaucomatous pathology

decreased amacrine cell number ( J:234170 )

• mice exhibit fewer displaced amacrine cells in the ganglion cell layer at 2 months of age

retina ganglion cell degeneration ( J:234170 )

• loss of retinal ganglion cells and their axons in 2 month old retina, with loss of axons occurring in a segmental, fan-shaped manner

abnormal optic disk morphology ( J:234170 )

• damage of the optic nerve head

optic nerve cupping ( J:234170 )

• retinal ganglion cell axon loss is associated with damage of the optic nerve head, indicative of excavation or cupping

optic nerve degeneration ( J:234170 )

• optic nerves exhibit decreased number of myelinated axons, the presence of degenerating axons and areas of severe atrophy in 2 month old mice

optic nerve atrophy ( J:234170 )

• areas of severe optic nerve atrophy is seen in 2 month old mice

abnormal iridocorneal angle ( J:234170 )

• the iridocorneal angle is disrupted with the iris adherent to the cornea, creating a closed angle phenotype

• defects in the angle tissue are present at E18.5

abnormal ciliary body morphology ( J:234170 )

• the ciliary body is malformed in 2-3 month old mice and is potentially rudimentary as it lacks its normally convoluted and lobulated structure

abnormal cornea morphology ( J:234170 )

• at E15.5, the cornea is less compact, with large gaps within the stroma

• multiple defects of the corneal layers derived from the periocular mesenchyme are seen in 2-3 month old mice, including the lack of a clear endothelial layer and a less cohesive corneal stroma

• corneolenticular adhesion

cornea vascularization ( J:234170 )

• presence of red blood cells in the corneal stroma at E18.5

• marker analysis indicates the presence of blood vessels in the cornea of 2 month old mice, indicating vascularization of the cornea

anterior iris synechia ( J:234170 )

• the iris is adherent to the cornea

• adhesion between the cornea and iris detected 360 degrees around the eye

absent cornea endothelium ( J:234170 )

• lack of a clear endothelial layer in the cornea of 2-3 month old mice

• defects in the corneal endothelium are present at E18.5

abnormal cornea epithelium morphology ( J:234170 )

• 2-3 month old mice exhibit reduced stratification of the corneal epithelial layer

decreased cornea epithelium thickness ( J:234170 )

• the corneal epithelial layer is reduced in thickness

abnormal cornea stroma morphology ( J:234170 )

• large gaps within the stroma are seen at E15.5

• the corneal stroma is less cohesive in 2-3 month old mice

fused cornea and lens ( J:234170 )

• cornea and lens adhere to one another at E15.5

abnormal eye anterior chamber morphology ( J:234170 )

• multiple malformations of the anterior chamber are seen in 2-3 month old mice

abnormal lens epithelium morphology ( J:234170 )

• lens epithelium is disorganized and multi-layered in 2-3 month old mice, characteristic of a cataract

anterior subcapsular cataract ( J:234170 )

thin retina inner plexiform layer ( J:234170 )

decreased total retina thickness ( J:234170 )

• retinal thickness is decreased in 2-3 month old mice, mainly due to thinning of the inner plexiform layer

eye opacity ( J:234170 )

• ocular opacity is seen after eyelid opening that persists as mice age

ocular hypertension ( J:234170 )

• approximate 3-fold elevation of intraocular pressure is seen in 3 month old mice