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Phenotypes Associated with This Genotype
Genotype
MGI:4821786
Allelic
Composition
Pax6tm2Pgr/Pax6+
Tg(Pax6-cre,GFP)1Pgr/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6tm2Pgr mutation (1 available); any Pax6 mutation (77 available)
Tg(Pax6-cre,GFP)1Pgr mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• axons in the optic nerve are arranged less densely than in controls
• 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 nerves are about 30-35% smaller in area and contain fewer axons than controls

vision/eye
• axons in the optic nerve are arranged less densely than in controls
• 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 nerves are about 30-35% smaller in area and contain fewer axons than controls
• 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
• differentiation of Schlemm's canal does not occur and is absent in the eyes of 3 month old mutants
• differentiation of trabecular meshwork does not occur and is absent in the eyes of 3 month old mutants
• 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
• 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
• 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
• 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


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