Phenotypes associated with this allele

• Allele Symbol: Tg(Pax6-cre,GFP)1Pgr
• Allele Name: transgene insertion 1, Peter Gruss
• Allele ID: MGI:3045749
• Summary: 25 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Atrip^tm1.1Pof/Atrip^tm1.1Pof Tg(Pax6-cre,GFP)1Pgr/0	involves: 129P2/OlaHsd * C57BL/6 * FVB * SJL	MGI:6501213
cn2	Zeb2^tm1.1Yhi/Zeb2^tm1.1Yhi Tg(Pax6-cre,GFP)1Pgr/0	involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6 * FVB	MGI:3624750
cn3	Pygo2^tm1.1Ssp/Pygo2^tm1.2Ssp H2az2^Tg(Wnt1-cre)11Rth/H2az2^+ Tg(Pax6-cre,GFP)1Pgr/?	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * FVB	MGI:3711516
cn4	Pygo2^tm1.1Ssp/Pygo2^tm1.1Ssp Tg(Pax6-cre,GFP)1Pgr/?	involves: 129S1/Sv * 129X1/SvJ * FVB	MGI:3711496
cn5	Hif1a^tm3Rsjo/Hif1a^tm3Rsjo Tg(Pax6-cre,GFP)1Pgr/0	involves: 129S1/Sv * 129X1/SvJ * FVB	MGI:4418547
cn6	Pygo2^tm1.1Ssp/Pygo2^tm1.2Ssp Tg(Pax6-cre,GFP)1Pgr/?	involves: 129S1/Sv * 129X1/SvJ * FVB	MGI:3711497
cn7	Pax6^tm2Pgr/Pax6^+ Tg(Pax6-cre,GFP)1Pgr/0	involves: 129S1/Sv * 129X1/SvJ * FVB	MGI:4821786
cn8	Ptpn11^tm1Gsf/Ptpn11^tm1Gsf Tg(Pax6-cre,GFP)1Pgr/0	involves: 129S1/Sv * 129X1/SvJ * FVB	MGI:4943280
cn9	Ndst1^tm1Grob/Ndst1^tm1Grob Ndst2^tm1Lkj/Ndst2^tm1Lkj Tg(Pax6-cre,GFP)1Pgr/0	involves: 129S1/Sv * 129X1/SvJ * FVB/N	MGI:4943275
cn10	Ndst1^tm1Grob/Ndst1^tm1Grob Tg(Pax6-cre,GFP)1Pgr/0	involves: 129S1/Sv * 129X1/SvJ * FVB/N	MGI:4943274
cn11	Kdr^tm1.1Jamb/Kdr^tm1.1Jamb Tg(Pax6-cre,GFP)1Pgr/0	involves: 129S1/Sv * 129X1/SvJ * FVB/N * ICR	MGI:4367768
cn12	Pax6^tm1Pgr/Pax6^tm2Pgr Tg(Pax6-cre,GFP)1Pgr/0	involves: 129S1/Sv * 129X1/SvJ * FVB * NMRI	MGI:3045795
cn13	Scrib^tm1.1Cj/Scrib^tm1.1Cj Tg(Pax6-cre,GFP)1Pgr/0	involves: 129S1/Sv * FVB/N	MGI:5559585
cn14	Six3^tm2Gco/Six3^tm2.1Gco Tg(Pax6-cre,GFP)1Pgr/0	involves: 129S1/Sv * FVB/N	MGI:3693847
cn15	Pnn^tm1.1Sps/Pnn^tm1.2Sps Tg(Pax6-cre,GFP)1Pgr/0	involves: 129S4/SvJae * FVB	MGI:4455346
cn16	Pknox1^tm1.1Xzh/Pknox1^tm1.1Xzh Tg(Pax6-cre,GFP)1Pgr/0	involves: 129S6/SvEvTac * C57BL/6 * FVB	MGI:5317874
cn17	Ncoa6^tm3Jxu/Ncoa6^tm3.1Jxu Tg(Pax6-cre,GFP)1Pgr/0	involves: 129S6/SvEvTac * C57BL/6 * FVB/N	MGI:4837886
cn18	Klf4^tm1Khk/Klf4^tm1Khk Klf5^tm1Jaw/Klf5^tm1Jaw Tg(Pax6-cre,GFP)1Pgr/0	involves: 129S6/SvEvTac * FVB	MGI:5644970
cn19	Chd7^tm1.1Dmm/Chd7^tm1.1Dmm Tg(Pax6-cre,GFP)1Pgr/0	involves: 129S6/SvEvTac * FVB	MGI:5807349
cn20	Klf4^tm1Khk/Klf4^tm1Khk Tg(Pax6-cre,GFP)1Pgr/0	involves: 129S6/SvEvTac * FVB/N	MGI:5613997
cn21	Ncoa6^tm3Jxu/Ncoa6^tm3Jxu Tg(Pax6-cre,GFP)1Pgr/0	involves: 129S6/SvEvTac * FVB/N	MGI:4837887
cn22	Fgfr2^tm1Dor/Fgfr2^tm1Dor Tg(Pax6-cre,GFP)1Pgr/0	involves: 129X1/SvJ * FVB	MGI:4943279
cn23	Klf5^tm1Jaw/Klf5^tm1Jaw Tg(Pax6-cre,GFP)1Pgr/0	involves: FVB	MGI:5644968
cn24	Pax6^tm2Pgr/Pax6^tm2Pgr Tg(Pax6-cre,GFP)1Pgr/0	involves: FVB * NMRI	MGI:3045797
cx25	Msx2^tm1Rilm/Msx2^tm1Rilm Tg(Pax6-cre,GFP)1Pgr/0	involves: 129S4/SvJae * FVB	MGI:5427700

Genotype
MGI:6501213

cn1

• Allelic Composition: Atrip^tm1.1Pof/Atrip^tm1.1Pof; Tg(Pax6-cre,GFP)1Pgr/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB * SJL

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

vision/eye

aphakia ( J:299031 )

• in E9 embryos

microphthalmia ( J:299031 )

• ~80% reduction in eye volume at age P21

Genotype
MGI:3624750

cn2

• Allelic Composition: Zeb2^tm1.1Yhi/Zeb2^tm1.1Yhi; Tg(Pax6-cre,GFP)1Pgr/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6 * FVB

vision/eye

abnormal lens morphology ( J:101730 )

• exhibit a persistent lens stalk at E13.5, E14.5 and even P0

abnormal lens fiber morphology ( J:101730 )

• arrest of lens fiber cell maturation at the bow-region stage

small lens ( J:101730 )

• increase in apoptotic cells in the lens results in a smaller lens size

Genotype
MGI:3711516

cn3

• Allelic Composition: Pygo2^tm1.1Ssp/Pygo2^tm1.2Ssp; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Tg(Pax6-cre,GFP)1Pgr/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA * FVB

vision/eye

small lens ( J:121416 )

• at E12.5, lens reduction is more severe that in either single cre cross but not as severe as in the Pygo2 null homozygotes

Genotype
MGI:3711496

cn4

• Allelic Composition: Pygo2^tm1.1Ssp/Pygo2^tm1.1Ssp; Tg(Pax6-cre,GFP)1Pgr/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB

vision/eye

abnormal lens induction ( J:121416 )

• beginning at E9.5, lens induction is abnormal as indicated by reduced Pax6+ cells

abnormal optic placode morphology ( J:121416 )

• at E9.5, the lens placode is thinner

abnormal lens epithelium morphology ( J:121416 )

• at E12.5, the pigmented epithelium is collapsed to the center of the eye cup

aphakia ( J:121416 )

• at E12.5, lenses were small or absent

small lens ( J:121416 )

• at E12.5, lenses were small or absent

craniofacial

small optic pit ( J:121416 )

• at E10.5, the optic pit is smaller than normal

Genotype
MGI:4418547

cn5

• Allelic Composition: Hif1a^tm3Rsjo/Hif1a^tm3Rsjo; Tg(Pax6-cre,GFP)1Pgr/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB

vision/eye

increased lens fiber apoptosis ( J:141905 )

• at 1 month of age

abnormal lens morphology ( J:141905 )

• although born with normal lenses, mice exhibit lens degeneration after 1 month unlike wild-type mice

abnormal lens fiber morphology ( J:141905 )

• at 1 month of age, fiber cells are swollen and disorganized with many apoptotic nuclei unlike in wild-type mice

small lens ( J:141905 )

• at 1 month of age

cellular

increased lens fiber apoptosis ( J:141905 )

• at 1 month of age

Genotype
MGI:3711497

cn6

• Allelic Composition: Pygo2^tm1.1Ssp/Pygo2^tm1.2Ssp; Tg(Pax6-cre,GFP)1Pgr/?
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB

vision/eye

small lens ( J:121416 )

• at E12.5, lenses were small compared to normal but not as severe as in Pygo2 null homozygotes

Genotype
MGI:4821786

cn7

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

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

Genotype
MGI:4943280

cn8

• Allelic Composition: Ptpn11^tm1Gsf/Ptpn11^tm1Gsf; Tg(Pax6-cre,GFP)1Pgr/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB

endocrine/exocrine glands

abnormal lacrimal gland development ( J:130571 )

• at E14.5 and P0, lacrimal gland development is disrupted compared to in wild-type mice

absent lacrimal glands ( J:130571 )

vision/eye

abnormal lacrimal gland development ( J:130571 )

• at E14.5 and P0, lacrimal gland development is disrupted compared to in wild-type mice

absent lacrimal glands ( J:130571 )

Genotype
MGI:4943275

cn9

• Allelic Composition: Ndst1^tm1Grob/Ndst1^tm1Grob; Ndst2^tm1Lkj/Ndst2^tm1Lkj; Tg(Pax6-cre,GFP)1Pgr/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

endocrine/exocrine glands

absent lacrimal glands ( J:130571 )

• in all mice

vision/eye

absent lacrimal glands ( J:130571 )

• in all mice

Genotype
MGI:4943274

cn10

• Allelic Composition: Ndst1^tm1Grob/Ndst1^tm1Grob; Tg(Pax6-cre,GFP)1Pgr/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N

endocrine/exocrine glands

abnormal lacrimal gland development ( J:130571 )

• reduced in 50% of newborn mice due to impaired budding and defective cell proliferation

absent lacrimal glands ( J:130571 )

• in 46% of mice

vision/eye

abnormal lacrimal gland development ( J:130571 )

• reduced in 50% of newborn mice due to impaired budding and defective cell proliferation

absent lacrimal glands ( J:130571 )

• in 46% of mice

microphthalmia ( J:130571 )

Genotype
MGI:4367768

cn11

• Allelic Composition: Kdr^tm1.1Jamb/Kdr^tm1.1Jamb; Tg(Pax6-cre,GFP)1Pgr/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB/N * ICR

vision/eye

abnormal cornea morphology ( J:154336 )

• at P0, corneas are densely covered with lymphatic vessels unlike in wild-type mice

• however, mice exhibit normal limbal blood vessels and corneal hemangiogenesis in response to suture injury

immune system

abnormal lymphatic vessel morphology ( J:154336 )

• hyperplastic lymphatic vessels in the cornea lack erythocytes, do not have a continuous basement membrane, and containing partly overlapping thin endothelial cells free of pericyte coverage unlike wild-type lymphatic vessels

lymphatic vessel hyperplasia ( J:154336 )

• at P0, corneas are densely covered with lymphatic vessels unlike in wild-type mice

cellular

abnormal basement membrane morphology ( J:154336 )

• hyperplastic lymphatic vessels in the cornea do not have a continuous basement membrane unlike wild-type lymphatic vessels

Genotype
MGI:3045795

cn12

• Allelic Composition: Pax6^tm1Pgr/Pax6^tm2Pgr; Tg(Pax6-cre,GFP)1Pgr/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * FVB * NMRI

mortality/aging

postnatal lethality, complete penetrance ( J:90642 )

• most mutant pups die 3 - 6 days after birth with an overt diabetic phenotype

endocrine/exocrine glands

decreased pancreatic alpha cell number ( J:90642 )

• very few alpha cells are seen

decreased pancreatic beta cell number ( J:90642 )

• the number of insulin-expressing cells is decreased

growth/size/body

postnatal growth retardation ( J:90642 )

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

homeostasis/metabolism

hyperglycemia ( J:90642 )

• 2 - 6 days after birth mutant pups develop hyperglycemia

decreased circulating insulin level ( J:90642 )

• 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

increased circulating ketone body level ( J:90642 )

• at P3 ketones are seen in all mutants with glucose levels above 20mM

vision/eye

absent optic placodes ( J:65765 )

• lens induction occurs but no thickening or invagination of the surface ectoderm is seen indicating that the lens placode fails to form

abnormal optic cup morphology ( J:65765 )

• the optic cup does not form; however, at E11 multiple folds are seen in the neuroretina each developing into a separate retina domain

abnormal optic vesicle formation ( J:65765 )

• at E10 - E10.5 invagination of the distal wall of the optic vesicle does not occur

Genotype
MGI:5559585

cn13

• Allelic Composition: Scrib^tm1.1Cj/Scrib^tm1.1Cj; Tg(Pax6-cre,GFP)1Pgr/0
• Genetic Background: involves: 129S1/Sv * FVB/N

vision/eye

iris hyperplasia ( J:204591 )

• hyperplastic, occludes the pupil

abnormal cornea epithelium morphology ( J:204591 )

• irregularly arranged and squamous cells instead of stratified cuboidal cells

abnormal lens morphology ( J:204591 )

• misshapen, small and vacuolated with central opacity

abnormal lens epithelium morphology ( J:204591 )

• squamous rather than cuboidal cells with loss of E-cadherin early in development

• cells acquire mesenchymal traits

cataract ( J:204591 )

• central opacity

small lens ( J:204591 )

Genotype
MGI:3693847

cn14

• Allelic Composition: Six3^tm2Gco/Six3^tm2.1Gco; Tg(Pax6-cre,GFP)1Pgr/0
• Genetic Background: involves: 129S1/Sv * FVB/N

nervous system

abnormal forebrain development ( J:116102 )

• some embryos injected with tamoxifen early show defective forebrain patterning

vision/eye

abnormal lens induction ( J:116102 )

• when tamoxifen is given at E7.5 and 8.5, no thickening or invagination of the PLE is observed at least in one side

Genotype
MGI:4455346

cn15

• Allelic Composition: Pnn^tm1.1Sps/Pnn^tm1.2Sps; Tg(Pax6-cre,GFP)1Pgr/0
• Genetic Background: involves: 129S4/SvJae * FVB

vision/eye

vision/eye phenotype ( J:160411 )

N • no changes in proliferation or apoptosis are detected in the eye

irregularly shaped pupil ( J:160411 )

abnormal cornea morphology ( J:160411 )

• severely disorganized

• accumulation of mesenchymal and vascular cells in the posterior area of the cornea

• expression analysis indicates squamous metaplasia with loss of specific corneal epithelial identity

abnormal cornea stroma morphology ( J:160411 )

• increased cellularity and abnormal cellular arrangements at E14.5

abnormal lens morphology ( J:160411 )

• lens degeneration

microphthalmia ( J:160411 )

Genotype
MGI:5317874

cn16

• Allelic Composition: Pknox1^tm1.1Xzh/Pknox1^tm1.1Xzh; Tg(Pax6-cre,GFP)1Pgr/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB

normal phenotype

no abnormal phenotype detected ( J:182769 )

• viable and fertile, without any overt endocrine phenotype

Genotype
MGI:4837886

cn17

• Allelic Composition: Ncoa6^tm3Jxu/Ncoa6^tm3.1Jxu; Tg(Pax6-cre,GFP)1Pgr/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N

vision/eye

abnormal lens morphology ( J:165054 )

cataract ( J:165054 )

• at P21 to 2.5 months

small lens ( J:165054 )

• lens phenotype are less severe than in Tg(Cryaa-NCOA6*)AD5Cve mice

Genotype
MGI:5644970

cn18

• Allelic Composition: Klf4^tm1Khk/Klf4^tm1Khk; Klf5^tm1Jaw/Klf5^tm1Jaw; Tg(Pax6-cre,GFP)1Pgr/0
• Genetic Background: involves: 129S6/SvEvTac * FVB

vision/eye

decreased cornea stroma thickness ( J:175263 )

• at 8 weeks of age, the mutant corneal stroma is thinner with relatively fewer keratocytes relative to wild-type and single Klf5 conditional knockout corneas

eyelids fail to open ( J:175263 )

• mutant eyes fail to open as late as 35 weeks after birth, the latest stage examined

abnormal ocular surface morphology ( J:175263 )

• co-ablation of Klf4 and Klf5 in the ocular surface results in more severe eyelid and corneal abnormalities than those in either single conditional knockout

abnormal conjunctival epithelium morphology ( J:175263 )

• at 8 weeks of age, the mutant conjunctival epithelium is thinner than the wild-type or single Klf5 conditional knockout epithelium

absent conjunctiva goblet cells ( J:175263 )

• at 8 weeks of age, conjunctiva goblet cells are missing

abnormal cornea epithelium morphology ( J:175263 )

• at 8 weeks of age, the mutant corneal epithelium is thinner than the wild-type and single Klf5 conditional knockout corneal epithelia, and remains fused to the eyelids

Genotype
MGI:5807349

cn19

• Allelic Composition: Chd7^tm1.1Dmm/Chd7^tm1.1Dmm; Tg(Pax6-cre,GFP)1Pgr/0
• Genetic Background: involves: 129S6/SvEvTac * FVB

vision/eye

small lens ( J:231044 )

• lenses at E12.5 are smaller but appear normal

• however, mice show well-formed eye structures at E12.5, the presence of optic cup and stalk, and the emerging retinal and pigmented epithelial layers from the optic cup appear normal and mice do not exhibit coloboma

Genotype
MGI:5613997

cn20

• Allelic Composition: Klf4^tm1Khk/Klf4^tm1Khk; Tg(Pax6-cre,GFP)1Pgr/0
• Genetic Background: involves: 129S6/SvEvTac * FVB/N

vision/eye

blepharitis ( J:117671 )

• at 8 weeks of age, adult mutants display inflammation of the eyelids

abnormal eye morphology ( J:117671 )

• at 8 weeks of age, enucleated mutant eyeballs appear marginally smaller and show a rough and speckled surface, unlike controls

• however, no major difference in eyelid fusion or the structure of the developing eye are noted at P1

acoria ( J:117671 )

• in some cases pupils are absent

small pupil ( J:117671 )

• at 8 weeks of age, about 20% of mutant eyes exhibit a hyperplastic iris causing the pupil to be smaller or absent in some eyes

iris hyperplasia ( J:117671 )

• at 8 weeks of age, about 20% of mutant eyes exhibit a hyperplastic iris

absent conjunctiva goblet cells ( J:117671 )

• at 8 weeks of age, the conjunctiva lacks goblet cells, unlike in control mice

abnormal Bowman membrane morphology ( J:117671 )

• TEM shows that the basement layer beneath the epithelial cells is thinner in mutant corneas

• fewer and less-electron-dense hemidesmosomes connecting the basal epithelial cells to the basement membrane are observed in mutant corneas

abnormal cornea endothelium morphology ( J:117671 )

• at 8 weeks of age, the corneal endothelial cells are swollen and highly vacuolated

• however, the Descemet's membrane appears normal

abnormal cornea epithelium morphology ( J:117671 )

• epithelial bulli are occasionally observed in mutant corneas

• TEM indicates fewer corneal epithelium cell layers, fewer microvilli on the superficial cells, as well as swollen, spherical, and vacuolated basal cells, and a higher frequency of delamination than wild-type cells

• SEM of the corneal surface shows a mix of electron-dense and light cells, unlike the uniformly stained cells seen at the wild-type corneal surface

decreased cornea epithelium thickness ( J:117671 )

• at 8 weeks of age, the corneal epithelium has 3 to 4 instead of the normal 5 to 8 cell layers

abnormal cornea stroma morphology ( J:117671 )

• at 8 weeks of age, the corneal stroma is edematous, unlike in controls

• expression of the aquaporin-5 gene is downregulated, consistent with stromal edema

abnormal cornea anterior stroma morphology ( J:117671 )

• in the anterior stroma, the mean number of collagen fibrils per unit cross-sectional is reduced to ~70% of the wild-type number, resulting in higher interfibrillar space, consistent with stromal edema

increased cornea stroma thickness ( J:117671 )

• at 8 weeks of age, the mean corneal stroma thickness is increased by 45%

lens vacuoles ( J:117671 )

• at 8 weeks of age, the anterior cortical lens is vacuolated, unlike in control mice

abnormal lens fiber morphology ( J:117671 )

• at 8 weeks of age, the mutant lens shows vacuolated anterior cortical lens fiber cells beneath the epithelium, extending to the bow region, unlike the compactly packed fiber cells seen in the wild-type lens

small lens ( J:117671 )

• at 8 weeks of age, the mean size of the mutant lens is decreased by about 12%

microphthalmia ( J:117671 )

• at 8 weeks of age, the mean size of the mutant eye is decreased by about 12%

increased cornea fragility ( J:117671 )

• a 2-fold increase in the number of BrdU-incorporating cells is noted in the corneal epithelium, suggesting that the reduced number of corneal epithelial cell layers is due to excessive cell sloughing rather than a reduced rate of cell proliferation

• expression of the keratin-12 gene is downregulated, consistent with corneal epithelial fragility

immune system

blepharitis ( J:117671 )

• at 8 weeks of age, adult mutants display inflammation of the eyelids

Genotype
MGI:4837887

cn21

• Allelic Composition: Ncoa6^tm3Jxu/Ncoa6^tm3Jxu; Tg(Pax6-cre,GFP)1Pgr/0
• Genetic Background: involves: 129S6/SvEvTac * FVB/N

vision/eye

cataract ( J:165054 )

• at P21 to 2.5 months

small lens ( J:165054 )

• lens phenotype are less severe than in Tg(Cryaa-NCOA6*)AD5Cve mice

Genotype
MGI:4943279

cn22

• Allelic Composition: Fgfr2^tm1Dor/Fgfr2^tm1Dor; Tg(Pax6-cre,GFP)1Pgr/0
• Genetic Background: involves: 129X1/SvJ * FVB

endocrine/exocrine glands

abnormal lacrimal gland development ( J:130571 )

• at E14.5, the presumptive lacrimal gland precursor remains a thin layer of epithelial cells with little proliferation and no budding unlike in wild-type mice

absent lacrimal gland bud ( J:130571 )

• at E14.5, mutants never develop lacrimal buds

absent lacrimal glands ( J:130571 )

vision/eye

abnormal lacrimal gland development ( J:130571 )

• at E14.5, the presumptive lacrimal gland precursor remains a thin layer of epithelial cells with little proliferation and no budding unlike in wild-type mice

absent lacrimal gland bud ( J:130571 )

• at E14.5, mutants never develop lacrimal buds

absent lacrimal glands ( J:130571 )

Genotype
MGI:5644968

cn23

• Allelic Composition: Klf5^tm1Jaw/Klf5^tm1Jaw; Tg(Pax6-cre,GFP)1Pgr/0
• Genetic Background: involves: FVB

vision/eye

lacrimal gland inflammation ( J:175263 )

• at 8 weeks of age, mutant lacrimal glands display numerous infiltrating cells, indicating inflammation

abnormal extraocular muscle morphology ( J:175263 )

• at 8 weeks of age, a thicker extra-ocular muscle is observed

abnormal iris morphology ( J:175263 )

• >80% of adult mutant eyes are small and contain a hypertrophic iris

small pupil ( J:175263 )

• >80% of adult mutant eyes exhibit small pupils

anterior iris synechia ( J:175263 )

• frequent iridocorneal fusion is observed

posterior iris synechia ( J:175263 )

• frequent iridolenticular fusion is observed

abnormal cornea morphology ( J:175263 )

• at 8 weeks of age, a rough and translucent cornea is observed

increased cornea thickness ( J:175263 )

• mutant corneas are thicker than wild-type at P6, P11, P21 and at 10 weeks of age

• however, corneas appear normal at E13.5, E15.5 and E18.5

abnormal cornea stroma morphology ( J:175263 )

• mutant corneal stroma is relatively more intensely stained by PAS, suggesting increased levels of proteoglycans

increased cornea stroma thickness ( J:175263 )

• postnatal mutant corneal stroma is hypercellular

• at 8 weeks of age, central corneal stromal thickness and cell density are increased

cornea opacity ( J:175263 )

• at 8 weeks of age

abnormal lens morphology ( J:175263 )

• mutant lenses appear spongy and deformed at P6, P11, P21 and at 10 weeks of age

abnormal lens epithelium morphology ( J:175263 )

• at E18.5 and P1, mutant lenses contain significantly fewer epithelial cells in the central anterior region than wild-type controls

• also, fewer and abnormally arranged nuclei are observed in the differentiating equatorial region

disorganized secondary lens fibers ( J:175263 )

• although mutant primary lens fiber cells appear normal at E13.5 and E15.5, nuclei in E18.5 and P1 lens equatorial regions are disorganized, suggesting defects in secondary fiber formation

small lens ( J:175263 )

• >80% of postnatal mutant lenses are smaller than wild-type

microphthalmia ( J:175263 )

• at 8 weeks of age, the enucleated mutant eyeballs are relatively smaller than wild-type

• small eyes are noted at P6, P11, P21 and at 10 weeks of age

• >80% of adult mutant eyes show a small eye phenotype

• however, early eye development is relatively normal

abnormal eyelid morphology ( J:175263 )

• at P21, mutant eyelashes are irregularly oriented and the surrounding fur is disorganized

• mutant eyelids are swollen and hypercellular and contain fewer irregularly spaced Meibomian gland orifices at the mucocutaneous junction

• the palpebral epidermis is thicker with 7-9 layers of keratinocytes relative to 2-3 in wild-type controls

• mutant eyelids contain significantly enlarged hair follicles and sebaceous glands

• however, no major differences are observed in eyelid morphology at P5, P8 and P11

eyelid edema ( J:175263 )

• mutant eyelids are swollen at P6, P11, P21 and at 10 weeks of age

abnormal Meibomian gland acinus morphology ( J:175263 )

• at P21, mutant Meibomian glands exhibit disorganized, variably sized acini

abnormal Meibomian gland development ( J:175263 )

• a Meibomian gland bud is noted at P6 suggesting timely induction, but appears disorganized; this feature becomes more prominent at P11 and P21

• at P21, the swollen eyelids are hypercellular and contain severely malformed Meibomian glands with disorganized acini

abnormal eyelid aperture ( J:175263 )

• while wild-type eyelids open at P12, mutant eyelids remain closed as late as P21

narrow eye opening ( J:175263 )

• small palpebral fissure at P21

abnormal ocular surface morphology ( J:175263 )

• at P21, mutants display a >2-fold increase in epithelial cell proliferation in the eyelids, cornea, and conjunctiva, as determined by Ki67 staining

• Ki67-positive cells are significantly increased in mutant palpebral epidermis and eyelid hair follicles

• while Ki67-positive cells are restricted to basal epithelia in wild-type controls, they are also found in the spinous cell layers in the mutant cornea and conjunctiva

abnormal lacrimal gland morphology ( J:175263 )

• at 8 weeks of age, mutant lacrimal glands display excessive vasculature and disrupted acinar organization, unlike wild-type controls

lacrimal gland necrosis ( J:175263 )

• at 8 weeks of age, mutant lacrimal glands display interspersed dark spots resembling necrotic spots

abnormal conjunctival epithelium morphology ( J:175263 )

• at P21 and at 10 weeks, the mutant conjunctival epithelium appears rough and discontinuous, indicating a disrupted epithelial barrier

absent conjunctiva goblet cells ( J:175263 )

• at P21 and at 10 weeks, conjunctiva goblet cells are absent, unlike in wild-type controls

abnormal palpebral conjunctiva morphology ( J:175263 )

• at P21, the mutant palpebral conjunctiva is swollen and inflamed (reddish)

decreased cornea epithelium thickness ( J:175263 )

• at P21 and at 10 weeks, the mutant corneal epithelial basement membrane is thin and discontinuous, unlike in wild-type controls

cellular

increased cell proliferation ( J:175263 )

• at P21, mutants display a >2-fold increase in epithelial cell proliferation in the eyelids, cornea, and conjunctiva, as determined by Ki67 staining

• Ki67-positive cells are significantly increased in mutant palpebral epidermis and eyelid hair follicles

• while Ki67-positive cells are restricted to basal epithelia in wild-type controls, they are also found in the spinous cell layers in the mutant cornea and conjunctiva

endocrine/exocrine glands

abnormal Meibomian gland acinus morphology ( J:175263 )

• at P21, mutant Meibomian glands exhibit disorganized, variably sized acini

abnormal Meibomian gland development ( J:175263 )

• a Meibomian gland bud is noted at P6 suggesting timely induction, but appears disorganized; this feature becomes more prominent at P11 and P21

• at P21, the swollen eyelids are hypercellular and contain severely malformed Meibomian glands with disorganized acini

enlarged sebaceous gland ( J:175263 )

• at P21, mutant sebaceous glands are significantly enlarged

abnormal lacrimal gland morphology ( J:175263 )

• at 8 weeks of age, mutant lacrimal glands display excessive vasculature and disrupted acinar organization, unlike wild-type controls

lacrimal gland necrosis ( J:175263 )

• at 8 weeks of age, mutant lacrimal glands display interspersed dark spots resembling necrotic spots

abnormal Meibomian gland physiology ( J:175263 )

• at P21, an uneven lipid accumulation is noted in the Meibomian gland ducts

lacrimal gland inflammation ( J:175263 )

• at 8 weeks of age, mutant lacrimal glands display numerous infiltrating cells, indicating inflammation

immune system

lacrimal gland inflammation ( J:175263 )

• at 8 weeks of age, mutant lacrimal glands display numerous infiltrating cells, indicating inflammation

integument

abnormal Meibomian gland acinus morphology ( J:175263 )

• at P21, mutant Meibomian glands exhibit disorganized, variably sized acini

abnormal Meibomian gland development ( J:175263 )

• a Meibomian gland bud is noted at P6 suggesting timely induction, but appears disorganized; this feature becomes more prominent at P11 and P21

• at P21, the swollen eyelids are hypercellular and contain severely malformed Meibomian glands with disorganized acini

enlarged sebaceous gland ( J:175263 )

• at P21, mutant sebaceous glands are significantly enlarged

abnormal Meibomian gland physiology ( J:175263 )

• at P21, an uneven lipid accumulation is noted in the Meibomian gland ducts

enlarged hair follicles ( J:175263 )

• at P21, mutant eyelids contain significantly enlarged hair follicles

growth/size/body

eyelid edema ( J:175263 )

• mutant eyelids are swollen at P6, P11, P21 and at 10 weeks of age

muscle

abnormal extraocular muscle morphology ( J:175263 )

• at 8 weeks of age, a thicker extra-ocular muscle is observed

homeostasis/metabolism

eyelid edema ( J:175263 )

• mutant eyelids are swollen at P6, P11, P21 and at 10 weeks of age

craniofacial

eyelid edema ( J:175263 )

• mutant eyelids are swollen at P6, P11, P21 and at 10 weeks of age

Genotype
MGI:3045797

cn24

• Allelic Composition: Pax6^tm2Pgr/Pax6^tm2Pgr; Tg(Pax6-cre,GFP)1Pgr/0
• Genetic Background: involves: FVB * NMRI

mortality/aging

postnatal lethality, complete penetrance ( J:90642 )

• most mutant pups die 3 - 6 days after birth with an overt diabetic phenotype

endocrine/exocrine glands

decreased pancreatic alpha cell number ( J:90642 )

• very few alpha cells are seen

decreased pancreatic beta cell number ( J:90642 )

• the number of insulin-expressing cells is decreased

growth/size/body

postnatal growth retardation ( J:90642 )

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

homeostasis/metabolism

hyperglycemia ( J:90642 )

• 2 - 6 days after birth mutant pups develop hyperglycemia

decreased circulating insulin level ( J:90642 )

• 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

increased circulating ketone body level ( J:90642 )

• at P3 ketones are seen in all mutants with glucose levels above 20mM

Genotype
MGI:5427700

cx25

• Allelic Composition: Msx2^tm1Rilm/Msx2^tm1Rilm; Tg(Pax6-cre,GFP)1Pgr/0
• Genetic Background: involves: 129S4/SvJae * FVB

vision/eye

fused cornea and lens ( J:184697 )

• at E12.5, the cornea and lens are not separated

• at E12.5, the neural crest cells migrate into the vitreous cavity and push the lens toward the cornea while in wild-type mice, the lens vesicle and surface ectoderm are completely separated

microphthalmia ( J:184697 )