Analysis Tools|
Allele Symbol Allele Name Allele ID |
Pax6tm2Pgr targeted mutation 2, Peter Gruss MGI:1934348 |
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| Summary |
13 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• decreased cortical surface at P8
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• reduced of Cux1+ upper layer identity neurons
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• decreased Tbr2+ cells in E14.5 dorsal cortex
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit normal cortical surface at P8 and numbers of Tbr2+ intermediate progenitors at E14.5
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• mice exhibit increased production of Cux1+ upper layer identity neurons
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• ciliary body varies from normal in appearance to reduced folding compared to Pax6 tm2Pgr/+; Tg(Dct-cre)1Apdn animals
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• iris sphincter appearance is significantly, but variably improved compared to Pax6 tm2Pgr/+; Tg(Dct-cre)1Apdn
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• expression of transgenic Pax6 corrects iris length almost completely in Pax6tm2Pgr/+; Tg(Dct-cre)1Apdn animals (length is 92% of wild-type)
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• iris sphincter appearance is improved very slightly compared to Pax6tm2Pgr/+; Tg(Dct-cre) animals
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• expression of transgenic Pax6 partially corrects iris length in Pax6tm2Pgr/+; Tg(Dct-cre) animals (length is 73% of wild-type)
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit no defects in the iridocorneal angle, trabecular meshwork and Schlemm's canal
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• the stroma of the iris is thinner
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• iris does not respond to pilocarpine
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• iris sphincter muscle is markedly atrophied
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• margins are abnormally smooth with lack of pupillary ruffs
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• severe; iris fails to enlongate resulting in enlarged pupils; length is about 47% of wild-type
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• iris sphincter muscle is markedly atrophied
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• iris does not respond to pilocarpine
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• reduced at E15.5
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• sub-capsular clusters of mesenchymal cells are found in anterior chamber
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• almost or completely absent
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• almost absent with only residual strands covering anterior surface of lens; persistence of short iris stump with complete lack of ciliary body (CB) structure is observed
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• lentoid shape is distorted
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• lens is visibly smaller at E15.5
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• mutants have small eyes
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• retina is visibly smaller at E15.5
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• appears to protrude into anterior chamber in some eyes
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• not transparent in some eyes
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• reduced at E15.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• lens epithelial cells accumulate posterior to the lens equator unlike in wild-type mice
• anterior lens epithelium is reduced in size compared to in wild-type mice
• lens epithelial cells fail to exhibit the cell cycle
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• axons in the optic nerve are arranged less densely than in controls
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• optic nerves exhibit degenerating axons at 6 months of age, but not at 4 weeks of age, forming dense and irregular whorls of myelin
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• optic nerves are about 30-35% smaller in area and contain fewer axons than controls
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• axons in the optic nerve are arranged less densely than in controls
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• optic nerves exhibit degenerating axons at 6 months of age, but not at 4 weeks of age, forming dense and irregular whorls of myelin
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• optic nerves are about 30-35% smaller in area and contain fewer axons than controls
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• 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
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• differentiation of Schlemm's canal does not occur and is absent in the eyes of 3 month old mutants
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• differentiation of trabecular meshwork does not occur and is absent in the eyes of 3 month old mutants
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• 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
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• 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
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• 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
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• intraocular pressure in the eye is elevated
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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 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• thickened at E14.5
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• lens tissue is reduced, opaque, and shapeless compared to in wild-type mice
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• at E14.5, the lens is slightly more elongated than in wild-type mice
• at E15.5, transitional zone cells are disorganized unlike in wild-type mice
• anterior lens epithelial cells fail to exit the cell cycle at the equator unlike in wild-type mice
• anterior lens epithelial cells fail to differentiate and accumulate at the lens equator and in the posterior lens unlike in wild-type mice
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• anterior lens epithelial cells fail to exit the cell cycle at the equator unlike in wild-type mice
• anterior lens epithelial cells fail to differentiate and accumulate at the lens equator and in the posterior lens unlike in wild-type mice
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• lens fiber formation is arrested from E14.5 unlike in wild-type mice
• at P4, few fiber cells are found in the lenses unlike in wild-type mice
• at P30, no lens fiber cells are detected unlike in wild-type mice
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• at E14.5, mice exhibit small lenses compared to in wild-type mice
• lens tissue is decreased compared to in wild-type mice
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• 65% smaller by circumference compared with wild-type eyes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• most mutant pups die 3 - 6 days after birth with an overt diabetic phenotype
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• very few alpha cells are seen
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• the number of insulin-expressing cells is decreased
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• 2 - 6 days after birth mutant pups develop severe growth retardation
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• 2 - 6 days after birth mutant pups develop hyperglycemia
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• 2 - 6 days after birth mutant pups develop hypoinsulinemia with insulin levels in the pancrease at 18% of normal on P1 and 6% of normal on P3
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• at P3 ketones are seen in all mutants with glucose levels above 20mM
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• lens induction occurs but no thickening or invagination of the surface ectoderm is seen indicating that the lens placode fails to form
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• the optic cup does not form; however, at E11 multiple folds are seen in the neuroretina each developing into a separate retina domain
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• at E10 - E10.5 invagination of the distal wall of the optic vesicle does not occur
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• most mutant pups die 3 - 6 days after birth with an overt diabetic phenotype
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• very few alpha cells are seen
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• the number of insulin-expressing cells is decreased
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• 2 - 6 days after birth mutant pups develop severe growth retardation
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• 2 - 6 days after birth mutant pups develop hyperglycemia
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• 2 - 6 days after birth mutant pups develop hypoinsulinemia with insulin levels in the pancrease at 18% of normal on P1 and 6% of normal on P3
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• at P3 ketones are seen in all mutants with glucose levels above 20mM
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• most mutant pups die after birth
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• very few alpha cells are seen
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• the number of insulin-expressing cells is decreased
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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 11/12/2024 MGI 6.24 |
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