Phenotypes Associated with This Genotype

Genotype
MGI:4821786

• Allelic Composition: Pax6^tm2Pgr/Pax6⁺; Tg(Pax6-cre,GFP)1Pgr/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB

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

nervous system

abnormal optic nerve morphology ( J:163191 )

• axons in the optic nerve are arranged less densely than in controls

optic nerve degeneration ( J:163191 )

• optic nerves exhibit degenerating axons at 6 months of age, but not at 4 weeks of age, forming dense and irregular whorls of myelin

optic nerve hypoplasia ( J:163191 )

• optic nerves are about 30-35% smaller in area and contain fewer axons than controls

vision/eye

abnormal optic nerve morphology ( J:163191 )

• axons in the optic nerve are arranged less densely than in controls

optic nerve degeneration ( J:163191 )

• optic nerves exhibit degenerating axons at 6 months of age, but not at 4 weeks of age, forming dense and irregular whorls of myelin

optic nerve hypoplasia ( J:163191 )

• optic nerves are about 30-35% smaller in area and contain fewer axons than controls

abnormal iridocorneal angle ( J:163191 )

• differentiation of trabecular meshwork and Schlemm's canal does not occur and they are absent in the eyes of 3 month old mutants, resulting in complete closure of the iridocorneal angle due to the attachment of the root of the iris to the cornea

absent Schlemm's canal ( J:163191 )

• differentiation of Schlemm's canal does not occur and is absent in the eyes of 3 month old mutants

absent trabecular meshwork ( J:163191 )

• differentiation of trabecular meshwork does not occur and is absent in the eyes of 3 month old mutants

anterior iris synechia ( J:163191 )

• in the center of the cornea, where the lens stalk persists and the corneal endothelium is not formed, the anterior tip of the iris remains attached to the inner side of the cornea

abnormal cornea stroma morphology ( J:163191 )

• mice exhibit a central corneal stroma defect in which the corneal epithelium extends to come into contact with the anterior lens capsule and the corneal endothelium is missing in this area

• in some mice, a vesicle surrounded by epithelial cells is seen in the middle of the central corneal stroma

fused cornea and lens ( J:163191 )

• in newborns, the lens does not separate from the lens stalk and remains attached to the cornea throughout the first postnatal days but does detach by the third postnatal week

small lens ( J:163191 )

microphthalmia ( J:163191 )

ocular hypertension ( J:163191 )

• intraocular pressure in the eye is elevated

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
juvenile glaucoma		DOID:1068	OMIM:137750	J:163191
Peters anomaly		DOID:0060673	OMIM:604229	J:163191