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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pax6tm2Pgr
targeted mutation 2, Peter Gruss
MGI:1934348
Summary 13 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Pax6tm2Pgr/Pax6tm2Pgr
Smarcc2tm1.1Stoy/Smarcc2tm1.1Stoy
Emx1tm1(cre)Krj/Emx1+
involves: 129S1/Sv * 129S2/SvPas * C57BL/6 MGI:5504444
cn2
Pax6tm2Pgr/Pax6tm2Pgr
Smarcc2tm1.1Stoy/Smarcc2+
Emx1tm1(cre)Krj/Emx1+
involves: 129S1/Sv * 129S2/SvPas * C57BL/6 MGI:5504443
cn3
Pax6tm2Pgr/Pax6+
Tg(CAG-EGFP,-Pax6,-lacZ)1Stoy/0
Tg(Dct-cre)1Apdn/0
involves: 129S1/Sv * 129X1/SvJ MGI:4358213
cn4
Pax6tm2Pgr/Pax6tm2Pgr
Tg(Dct-cre)1Apdn/0
involves: 129S1/Sv * 129X1/SvJ MGI:4358211
cn5
Pax6tm2Pgr/Pax6+
Tg(Dct-cre)1Apdn/0
involves: 129S1/Sv * 129X1/SvJ MGI:4358212
cn6
Pax6tm2Pgr/Pax6+
Tg(CAG-EGFP,-Pax6*5a,-lacZ)1Stoy/0
Tg(Dct-cre)1Apdn/0
involves: 129S1/Sv * 129X1/SvJ MGI:4358214
cn7
Pax6tm2Pgr/Pax6+
Tg(Pax6-cre,GFP)2Pgr/0
involves: 129S1/Sv * 129X1/SvJ MGI:4821787
cn8
Pax6tm2Pgr/Pax6tm2Pgr
Sox2tm1.1Lan/Sox2tm1.1Lan
Tg(Cryaa-cre)10Mlr/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N * SJL MGI:4366457
cn9
Pax6tm2Pgr/Pax6+
Tg(Pax6-cre,GFP)1Pgr/0
involves: 129S1/Sv * 129X1/SvJ * FVB MGI:4821786
cn10
Pax6tm2Pgr/Pax6tm2Pgr
Tg(Cryaa-cre)10Mlr/0
involves: 129S1/Sv * 129X1/SvJ * FVB/N MGI:4366458
cn11
Pax6tm1Pgr/Pax6tm2Pgr
Tg(Pax6-cre,GFP)1Pgr/0
involves: 129S1/Sv * 129X1/SvJ * FVB * NMRI MGI:3045795
cn12
Pax6tm2Pgr/Pax6tm2Pgr
Tg(Pdx1-cre)6Cvw/0
involves: FVB * NMRI MGI:3045798
cn13
Pax6tm2Pgr/Pax6tm2Pgr
Tg(Pax6-cre,GFP)1Pgr/0
involves: FVB * NMRI MGI:3045797


Genotype
MGI:5504444
cn1
Allelic
Composition
Pax6tm2Pgr/Pax6tm2Pgr
Smarcc2tm1.1Stoy/Smarcc2tm1.1Stoy
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (28 available)
Pax6tm2Pgr mutation (1 available); any Pax6 mutation (73 available)
Smarcc2tm1.1Stoy mutation (0 available); any Smarcc2 mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• decreased cortical surface at P8
• reduced of Cux1+ upper layer identity neurons
• decreased Tbr2+ cells in E14.5 dorsal cortex




Genotype
MGI:5504443
cn2
Allelic
Composition
Pax6tm2Pgr/Pax6tm2Pgr
Smarcc2tm1.1Stoy/Smarcc2+
Emx1tm1(cre)Krj/Emx1+
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Emx1tm1(cre)Krj mutation (2 available); any Emx1 mutation (28 available)
Pax6tm2Pgr mutation (1 available); any Pax6 mutation (73 available)
Smarcc2tm1.1Stoy mutation (0 available); any Smarcc2 mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• mice exhibit normal cortical surface at P8 and numbers of Tbr2+ intermediate progenitors at E14.5
• mice exhibit increased production of Cux1+ upper layer identity neurons




Genotype
MGI:4358213
cn3
Allelic
Composition
Pax6tm2Pgr/Pax6+
Tg(CAG-EGFP,-Pax6,-lacZ)1Stoy/0
Tg(Dct-cre)1Apdn/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6tm2Pgr mutation (1 available); any Pax6 mutation (73 available)
Tg(CAG-EGFP,-Pax6,-lacZ)1Stoy mutation (0 available)
Tg(Dct-cre)1Apdn mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• ciliary body varies from normal in appearance to reduced folding compared to Pax6 tm2Pgr/+; Tg(Dct-cre)1Apdn animals
• iris sphincter appearance is significantly, but variably improved compared to Pax6 tm2Pgr/+; Tg(Dct-cre)1Apdn
• expression of transgenic Pax6 corrects iris length almost completely in Pax6tm2Pgr/+; Tg(Dct-cre)1Apdn animals (length is 92% of wild-type)




Genotype
MGI:4358211
cn4
Allelic
Composition
Pax6tm2Pgr/Pax6tm2Pgr
Tg(Dct-cre)1Apdn/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6tm2Pgr mutation (1 available); any Pax6 mutation (73 available)
Tg(Dct-cre)1Apdn mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• sub-capsular clusters of mesenchymal cells are found in anterior chamber
• almost or completely absent
• 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
• lentoid shape is distorted
• lens is opaque
• lens is visibly smaller at E15.5
• mutants have small eyes
• retina is visibly smaller at E15.5
• appears to protrude into anterior chamber in some eyes
• not transparent in some eyes

pigmentation




Genotype
MGI:4358212
cn5
Allelic
Composition
Pax6tm2Pgr/Pax6+
Tg(Dct-cre)1Apdn/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6tm2Pgr mutation (1 available); any Pax6 mutation (73 available)
Tg(Dct-cre)1Apdn mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• iris does not respond to pilocarpine
• iris sphincter muscle is markedly atrophied
• margins are abnormally smooth with lack of pupillary ruffs
• severe; iris fails to enlongate resulting in enlarged pupils; length is about 47% of wild-type

muscle
• iris sphincter muscle is markedly atrophied

behavior/neurological
• iris does not respond to pilocarpine




Genotype
MGI:4358214
cn6
Allelic
Composition
Pax6tm2Pgr/Pax6+
Tg(CAG-EGFP,-Pax6*5a,-lacZ)1Stoy/0
Tg(Dct-cre)1Apdn/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6tm2Pgr mutation (1 available); any Pax6 mutation (73 available)
Tg(CAG-EGFP,-Pax6*5a,-lacZ)1Stoy mutation (0 available)
Tg(Dct-cre)1Apdn mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• iris sphincter appearance is improved very slightly compared to Pax6tm2Pgr/+; Tg(Dct-cre) animals
• expression of transgenic Pax6 partially corrects iris length in Pax6tm2Pgr/+; Tg(Dct-cre) animals (length is 73% of wild-type)




Genotype
MGI:4821787
cn7
Allelic
Composition
Pax6tm2Pgr/Pax6+
Tg(Pax6-cre,GFP)2Pgr/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6tm2Pgr mutation (1 available); any Pax6 mutation (73 available)
Tg(Pax6-cre,GFP)2Pgr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
N
• mice exhibit no defects in the iridocorneal angle, trabecular meshwork and Schlemm's canal
• the stroma of the iris is thinner




Genotype
MGI:4366457
cn8
Allelic
Composition
Pax6tm2Pgr/Pax6tm2Pgr
Sox2tm1.1Lan/Sox2tm1.1Lan
Tg(Cryaa-cre)10Mlr/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6tm2Pgr mutation (1 available); any Pax6 mutation (73 available)
Sox2tm1.1Lan mutation (1 available); any Sox2 mutation (47 available)
Tg(Cryaa-cre)10Mlr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• 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

cellular




Genotype
MGI:4821786
cn9
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 (73 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




Genotype
MGI:4366458
cn10
Allelic
Composition
Pax6tm2Pgr/Pax6tm2Pgr
Tg(Cryaa-cre)10Mlr/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6tm2Pgr mutation (1 available); any Pax6 mutation (73 available)
Tg(Cryaa-cre)10Mlr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• thickened at E14.5
• lens tissue is reduced, opaque, and shapeless compared to in wild-type mice
• 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
• 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
• 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
• at E14.5, mice exhibit small lenses compared to in wild-type mice
• lens tissue is decreased compared to in wild-type mice
• 65% smaller by circumference compared with wild-type eyes

cellular




Genotype
MGI:3045795
cn11
Allelic
Composition
Pax6tm1Pgr/Pax6tm2Pgr
Tg(Pax6-cre,GFP)1Pgr/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * FVB * NMRI
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6tm1Pgr mutation (2 available); any Pax6 mutation (73 available)
Pax6tm2Pgr mutation (1 available); any Pax6 mutation (73 available)
Tg(Pax6-cre,GFP)1Pgr mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most mutant pups die 3 - 6 days after birth with an overt diabetic phenotype

endocrine/exocrine glands
• very few alpha cells are seen
• the number of insulin-expressing cells is decreased

growth/size/body
• 2 - 6 days after birth mutant pups develop severe growth retardation

homeostasis/metabolism
• 2 - 6 days after birth mutant pups develop hyperglycemia
• 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
• at P3 ketones are seen in all mutants with glucose levels above 20mM

vision/eye
• lens induction occurs but no thickening or invagination of the surface ectoderm is seen indicating that the lens placode fails to form
• the optic cup does not form; however, at E11 multiple folds are seen in the neuroretina each developing into a separate retina domain
• at E10 - E10.5 invagination of the distal wall of the optic vesicle does not occur




Genotype
MGI:3045798
cn12
Allelic
Composition
Pax6tm2Pgr/Pax6tm2Pgr
Tg(Pdx1-cre)6Cvw/0
Genetic
Background
involves: FVB * NMRI
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6tm2Pgr mutation (1 available); any Pax6 mutation (73 available)
Tg(Pdx1-cre)6Cvw mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most mutant pups die after birth

endocrine/exocrine glands
• very few alpha cells are seen
• the number of insulin-expressing cells is decreased




Genotype
MGI:3045797
cn13
Allelic
Composition
Pax6tm2Pgr/Pax6tm2Pgr
Tg(Pax6-cre,GFP)1Pgr/0
Genetic
Background
involves: FVB * NMRI
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax6tm2Pgr mutation (1 available); any Pax6 mutation (73 available)
Tg(Pax6-cre,GFP)1Pgr mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most mutant pups die 3 - 6 days after birth with an overt diabetic phenotype

endocrine/exocrine glands
• very few alpha cells are seen
• the number of insulin-expressing cells is decreased

growth/size/body
• 2 - 6 days after birth mutant pups develop severe growth retardation

homeostasis/metabolism
• 2 - 6 days after birth mutant pups develop hyperglycemia
• 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
• at P3 ketones are seen in all mutants with glucose levels above 20mM





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last database update
06/23/2022
MGI 6.20
The Jackson Laboratory