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Phenotypes Associated with This Genotype
Genotype
MGI:6152756
Allelic
Composition
Tfap2btm1Rbu/Tfap2btm2Will
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (25 available)
Tfap2btm1Rbu mutation (0 available); any Tfap2b mutation (17 available)
Tfap2btm2Will mutation (0 available); any Tfap2b mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• presence of a severe and fully penetrant closed angle phenotype that develops prior to 2 months of age indicating glaucomatous pathology
• mice exhibit fewer displaced amacrine cells in the ganglion cell layer at 2 months of age
• loss of retinal ganglion cells and their axons in 2 month old retina, with loss of axons occurring in a segmental, fan-shaped manner
• damage of the optic nerve head
• retinal ganglion cell axon loss is associated with damage of the optic nerve head, indicative of excavation or cupping
• optic nerves exhibit decreased number of myelinated axons, the presence of degenerating axons and areas of severe atrophy in 2 month old mice
• areas of severe optic nerve atrophy is seen in 2 month old mice
• 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
• the ciliary body is malformed in 2-3 month old mice and is potentially rudimentary as it lacks its normally convoluted and lobulated structure
• 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
• 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
• the iris is adherent to the cornea
• adhesion between the cornea and iris detected 360 degrees around the eye
• 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
• 2-3 month old mice exhibit reduced stratification of the corneal epithelial layer
• the corneal epithelial layer is reduced in thickness
• large gaps within the stroma are seen at E15.5
• the corneal stroma is less cohesive in 2-3 month old mice
• cornea and lens adhere to one another at E15.5
• multiple malformations of the anterior chamber are seen in 2-3 month old mice
• lens epithelium is disorganized and multi-layered in 2-3 month old mice, characteristic of a cataract
• retinal thickness is decreased in 2-3 month old mice, mainly due to thinning of the inner plexiform layer
• ocular opacity is seen after eyelid opening that persists as mice age
• approximate 3-fold elevation of intraocular pressure is seen in 3 month old mice

cardiovascular system
• 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

nervous system
• expression of GFAP is upregulated in Muller glia, indicating gliosis
• mice exhibit fewer displaced amacrine cells in the ganglion cell layer at 2 months of age
• loss of retinal ganglion cells and their axons in 2 month old retina, with loss of axons occurring in a segmental, fan-shaped manner
• damage of the optic nerve head
• retinal ganglion cell axon loss is associated with damage of the optic nerve head, indicative of excavation or cupping
• optic nerves exhibit decreased number of myelinated axons, the presence of degenerating axons and areas of severe atrophy in 2 month old mice
• areas of severe optic nerve atrophy is seen in 2 month old mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
angle-closure glaucoma DOID:13550 J:234170


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/28/2023
MGI 6.22
The Jackson Laboratory