Phenotypes associated with this allele

• Allele Symbol: Pax6⁺
• Allele Name: wild type
• Allele ID: MGI:1859364
• Summary: 51 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Pax6^Sey/Pax6^+	B10.Cg-Pax6^Sey	MGI:3588960
ht2	Pax6^Sey-Dey/Pax6^+	B6EiC3Sn a/A-Pax6^Sey-Dey/J	MGI:3771031
ht3	Pax6^1Jrt/Pax6^+	C3.B6-Pax6^1Jrt	MGI:2680573
ht4	Pax6^132-14Neu/Pax6^+	C3.Cg-Pax6^132-14Neu	MGI:3707320
ht5	Pax6^Sey-Neu/Pax6^+	C3.Cg-Pax6^Sey-Neu	MGI:3771066
ht6	Pax6^Coop/Pax6^+	C3.D2-Pax6^Coop	MGI:2175199
ht7	Pax6^Aey80/Pax6^+	C3HeB/FeJ-Pax6^Aey80	MGI:5511023
ht8	Pax6^Mhdaaey18/Pax6^+	C3HeB/FeJ-Pax6^Mhdaaey18	MGI:3611342
ht9	Pax6^Sey-Dey/Pax6^+	C3H/HeJ-Pax6^Sey-Dey	MGI:2175204
ht10	Pax6^em1(IMPC)Mbp/Pax6^+	C57BL/6N-Pax6^em1(IMPC)Mbp/MbpMmucd	MGI:6696844
ht11	Pax6^Sey/Pax6^+	C.Cg-Pax6^Sey	MGI:3709574
ht12	Pax6^4Neu/Pax6^+	either: (involves: 102 * C3H) or (involves: C3H)	MGI:3590308
ht13	Pax6^3Neu/Pax6^+	either: (involves: 102 * C3H) or (involves: C3H)	MGI:3590307
ht14	Pax6^132-14Neu/Pax6^+	involves: 101 * C3H	MGI:2175741
ht15	Pax6^Sey-4H/Pax6^+	involves: 101/H * C3H/HeCrj * C3H/HeH	MGI:4430208
ht16	Pax6^Sey-H/Pax6^+	involves: 101/H * C3H/HeH	MGI:2175206
ht17	Pax6^Sey-Neu/Pax6^+	involves: 102 * C3H	MGI:2175208
ht18	Pax6^7Neu/Pax6^+	involves: 102 * C3H	MGI:3613467
ht19	Pax6^2Neu/Pax6^+	involves: 102 * C3H	MGI:3613473
ht20	Pax6^5Neu/Pax6^+	involves: 102 * C3H	MGI:3613474
ht21	Pax6^8Neu/Pax6^+	involves: 102 * C3H	MGI:3613475
ht22	Pax6^9Neu/Pax6^+	involves: 102 * C3H	MGI:3613476
ht23	Pax6^10Neu/Pax6^+	involves: 102 * C3H	MGI:3613477
ht24	Pax6^6Neu/Pax6^+	involves: 102 * C3H	MGI:3588509
ht25	Pax6^3Neu/Pax6^+	involves: 102 * C3H	MGI:4943211
ht26	Pax6^Sey-Neu/Pax6^+	involves: 102 * C3H * C3H/HeN	MGI:3771032
ht27	Pax6^tm1Lan/Pax6^+	involves: 129S1/Sv * 129X1/SvJ	MGI:3759850
ht28	Pax6^tm1Pgr/Pax6^+	involves: 129S1/Sv * 129X1/SvJ	MGI:2386629
ht29	Pax6^tm2(Pax6_i5a,Pax2)Xzh/Pax6^+	involves: 129S6/SvEvTac	MGI:5512976
ht30	Pax6^tm2.1(Pax6_i5a,Pax2)Xzh/Pax6^+	involves: 129S6/SvEvTac * C57BL/6 * FVB/N	MGI:5512978
ht31	Pax6^tm1Gfs/Pax6^+	involves: 129S7/SvEvBrd	MGI:2674292
ht32	Pax6^Mhdaaey18/Pax6^+	involves: C3HeB/FeJ	MGI:3526886
ht33	Pax6^Sey-Dey/Pax6^+	involves: C3H/HeJ	MGI:4358887
ht34	Pax6^m1Lsli/Pax6^+	involves: C3H/HeJ * C57BL/6J	MGI:3837673
ht35	Pax6^ADD4802/Pax6^+	involves: C3H * T STOCK	MGI:3611340
ht36	Pax6^Sey/Pax6^+	involves: C57BL/6	MGI:3771036
ht37	Pax6^Rgsc123/Pax6^+	involves: C57BL/6JJcl * DBA/2JJcl	MGI:3798889
ht38	Pax6^Rgsc20/Pax6^+	involves: C57BL/6JJcl * DBA/2JJcl	MGI:3798480
ht39	Pax6^Rgsc242/Pax6^+	involves: C57BL/6JJcl * DBA/2JJcl	MGI:3799164
ht40	Pax6^Sey-3H/Pax6^+	Not Specified	MGI:2175202
ht41	Pax6^Sey/Pax6^+	Not Specified	MGI:2170872
ht42	Pax6^Sey-2H/Pax6^+	Not Specified	MGI:2175201
cn43	Pax6^tm2Pgr/Pax6^+ Tg(Pax6-cre,GFP)2Pgr/0	involves: 129S1/Sv * 129X1/SvJ	MGI:4821787
cn44	Pax6^tm2Pgr/Pax6^+ Tg(Dct-cre)1Apdn/0	involves: 129S1/Sv * 129X1/SvJ	MGI:4358212
cn45	Pax6^tm2Pgr/Pax6^+ Tg(CAG-EGFP,-Pax6,-lacZ)1Stoy/0 Tg(Dct-cre)1Apdn/0	involves: 129S1/Sv * 129X1/SvJ	MGI:4358213
cn46	Pax6^tm2Pgr/Pax6^+ Tg(CAG-EGFP,-Pax6*5a,-lacZ)1Stoy/0 Tg(Dct-cre)1Apdn/0	involves: 129S1/Sv * 129X1/SvJ	MGI:4358214
cn47	Pax6^tm2Pgr/Pax6^+ Tg(Pax6-cre,GFP)1Pgr/0	involves: 129S1/Sv * 129X1/SvJ * FVB	MGI:4821786
cx48	Pax6^Sey-Neu/Pax6^+ Sox2^tm1.1Vep/Sox2^+	involves: 102 * C3H * C3H/HeN	MGI:3771033
cx49	Mitf^tm3.1Arnh/Mitf^tm3.1Arnh Pax6^Sey-Neu/Pax6^+	involves: 129S6/SvEvTac * C57BL/6N	MGI:5316883
cx50	Mitf^mi-vga9/Mitf^mi-vga9 Pax6^Sey-Neu/Pax6^+	involves: C57BL/6 * CBA	MGI:5316878
cx51	Mitf^mi-vga9/Mitf^+ Pax6^Sey-Neu/Pax6^+	involves: C57BL/6 * CBA	MGI:5316876

Genotype
MGI:3588960

ht1

• Allelic Composition: Pax6^Sey/Pax6⁺
• Genetic Background: B10.Cg-Pax6^Sey

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

vision/eye

small lens ( J:8534 )

• with many vacuolated cells

• sometimes incompletely separated from overlying ectoderm

retina fold ( J:8534 )

• folding of the retinal epithelium around the anterior of the lens

Genotype
MGI:3771031

ht2

• Allelic Composition: Pax6^Sey-Dey/Pax6⁺
• Genetic Background: B6EiC3Sn a/A-Pax6^Sey-Dey/J

The Pax6^Sey-Dey/Pax6⁺ mouse

vision/eye

abnormal cornea epithelium morphology ( J:83791 )

• unlike in wild-type mice, basal cells are more rounded and the cell layers are not packed tightly

• no goblet cells are observed

• at 6 weeks, cell proliferation rates are increased (45% proliferative index compared to 4% proliferative index in wild-type mice)

• however, apoptosis rates are normal

• adhesion between cells in the suprabasal middle and superficial layers is disrupted

decreased cornea epithelium thickness ( J:83791 )

• the corneal epithelium is 1 to 7 cell layers thick instead of 8 to 10 as in wild-type mice

• reduction in cell layers is apparent at P14 and P21

abnormal cornea stroma morphology ( J:83791 )

• the stroma exhibits varied thickness and a general disorganizeation with large aggregates of laminn in the anterior region

Genotype
MGI:2680573

ht3

• Allelic Composition: Pax6^1Jrt/Pax6⁺
• Genetic Background: C3.B6-Pax6^1Jrt

vision/eye

abnormal iris morphology ( J:86523 )

• the posteriors of the lenses are pigmented brown and adherent to an unknown structure that is continuous with the iris

• the anterior lens region has brown pigmented surfaces continuous with the iris

anterior iris synechia ( J:86523 )

• interior surface of the cornea is completely adherent to the iris

cornea opacity ( J:86523 )

• phenotype varies from an asymmetric single spot of corneal opacity; corneal opacity of entire cornea; to asymmetric microphthalmia and anophthalmia

abnormal lens morphology ( J:86523 )

• histopathology indicates the lenses are atrophic, condensed and deeply eosinophilic, often with a central empty, possibly cystic region

microphthalmia ( J:86523 )

• phenotype varies from an asymmetric single spot of corneal opacity; corneal opacity of entire cornea; to asymmetric microphthalmia and anophthalmia

abnormal retina ganglion layer morphology ( J:86523 )

• the retinas have all the normal cell layers, but are mildly atrophic, especially in the ganglion cell layer

anophthalmia ( J:86523 )

• phenotype varies from an asymmetric single spot of corneal opacity; corneal opacity of entire cornea; to asymmetric microphthalmia and anophthalmia

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Peters anomaly		DOID:0060673	OMIM:604229	J:86523

Genotype
MGI:3707320

ht4

• Allelic Composition: Pax6^132-14Neu/Pax6⁺
• Genetic Background: C3.Cg-Pax6^132-14Neu

Pax6^132-14Neu/Pax6⁺ and Pax6^132-14Neu/Pax6^132-14Neu histological adult eye sections.

vision/eye

abnormal cornea morphology ( J:40665 )

abnormal cornea endothelium morphology ( J:40665 )

• fusion of the lens to the cornea is associated with a defect in the corneal stroma and endothelium, which is filled with epithelial cells continuous with those covering the conically projecting anterior surface of the lens

abnormal cornea stroma morphology ( J:40665 )

• defect in the corneal stroma, which is filled with epithelial cells

abnormal lens morphology ( J:40665 )

• in the lens, a plaque of multilayered epithelial cells and degenerated cortical fibers underlay the fusion point

fused cornea and lens ( J:40665 )

• the anterior pole of the lens is fused to the cornea

abnormal lens vesicle development ( J:40665 )

• failure of lens vesicle to separate from ectoderm

anterior polar cataract ( J:40665 )

• eyes in which the lens and cornea are separated display an anterior polar cataract and central corneal defect involving the stroma, Descemet's membrane, and endothelium

Genotype
MGI:3771066

ht5

• Allelic Composition: Pax6^Sey-Neu/Pax6⁺
• Genetic Background: C3.Cg-Pax6^Sey-Neu

vision/eye

abnormal eye development ( J:65597 )

• eye placode development is delayed

abnormal lens development ( J:65597 )

• mice exhibit reduced numbers of lens cells compared to wild-type mice (49+/-5% fewer at E10.5, 56+/-6% fewer at E11.5, and 46+/-3% at E12.5)

Genotype
MGI:2175199

ht6

• Allelic Composition: Pax6^Coop/Pax6⁺
• Genetic Background: C3.D2-Pax6^Coop

vision/eye

abnormal iris morphology ( J:66649 )

• in less severe cases with corneal opacity, the iris had attachments to the lens

cornea opacity ( J:66649 )

• variable penetrance with vascularization of the cornea in severe cases

microphthalmia ( J:66649 )

• variable penetrance with triangular lens apetures in embryonic stages

• mean eye weights were reduced in heterozygous animals

Genotype
MGI:5511023

ht7

• Allelic Composition: Pax6^Aey80/Pax6⁺
• Genetic Background: C3HeB/FeJ-Pax6^Aey80

vision/eye

vision/eye phenotype ( J:196657 )

N • the adult lens and cornea are clear

N • no lens-cornea adhesions as seen in embryos

abnormal eye morphology ( J:196657 )

corneal-lenticular stalk ( J:196657 )

• fusion between the lens and cornea in E15.5 embryos

• synechia between the lens and cornea

small lens ( J:196657 )

• slightly smaller than controls

• significantly reduced lens thickness

abnormal eye size ( J:196657 )

• axial length of the eye is reduced

microphthalmia ( J:196657 )

• small eyes

blindness ( J:196657 )

• as a result of strain background

Genotype
MGI:3611342

ht8

• Allelic Composition: Pax6^Mhdaaey18/Pax6⁺
• Genetic Background: C3HeB/FeJ-Pax6^Mhdaaey18

vision/eye

cornea opacity ( J:103785 )

• cornea is frequently opaque with a central dimple

corneal-lenticular stalk ( J:103785 )

• the lens stalk connecting lens and cornea persist

• the anterior chamber is very small

• appear as a central depression on cornea

cataract ( J:103785 )

microphthalmia ( J:103785 )

• small eyes with vacuolated lenses

Genotype
MGI:2175204

ht9

• Allelic Composition: Pax6^Sey-Dey/Pax6⁺
• Genetic Background: C3H/HeJ-Pax6^Sey-Dey

mortality/aging

neonatal lethality, incomplete penetrance ( J:6072 )

• 5% of mice die 8 to 10 hours after birth

vision/eye

abnormal retina pigment epithelium morphology ( J:6072 )

• mice have a reduced retinal pigment layer

aniridia ( J:10820 )

iris hypoplasia ( J:6072 )

• mice exhibit a partial or complete lose of iris tissue

• mice have an eye phenotype similar to aniridia

abnormal lens development ( J:6072 )

• lens pit development is delayed by 1 to 2 days relative to in wild-type mice

fused cornea and lens ( J:6072 )

cataract ( J:6072 )

• lens have anterior cataracts

small lens ( J:6072 )

• lens are small or absent

coloboma ( J:6072 )

• coloboma is visible by 11 days of gestation

microphthalmia ( J:6072 )

• mice have small eyes that are half the size of normal eyes

• the anterior chamber of the eye is missing

retina fold ( J:6072 )

• the retina is abnormally folded

nervous system

exencephaly ( J:6072 )

• at day 7 to 8 of gestation 2 embryos were found with exencephaly

pigmentation

belly spot ( J:6072 )

• mice have a white spot on their sternum that extends into a belt in some mice

abnormal retina pigment epithelium morphology ( J:6072 )

• mice have a reduced retinal pigment layer

hypopigmentation ( J:6072 )

• mice have reduced pigmentation on their feet and tails

growth/size/body

decreased body size ( J:6072 )

• mice are 10 to 20% smaller in size than wild-type mice

decreased fetal size ( J:6072 )

• mice are smaller than wild-type mice before birth and remain so the rest of their lives

neoplasm

neoplasm ( J:10820 )

N • despite the loss of Wt1, no abnormal tumors are detected in mice

renal/urinary system

renal/urinary system phenotype ( J:10820 )

N • mice have normal urogenital organs

integument

belly spot ( J:6072 )

• mice have a white spot on their sternum that extends into a belt in some mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
aniridia		DOID:12271	OMIM:PS106210	J:10820
NOT	WAGR syndrome	DOID:14515	OMIM:194072	J:10820

Genotype
MGI:6696844

ht10

• Allelic Composition: Pax6^em1(IMPC)Mbp/Pax6⁺
• Genetic Background: C57BL/6N-Pax6^em1(IMPC)Mbp/MbpMmucd

Data Sources

IMPC Data for Pax6

behavior/neurological

hyperactivity ( J:211773 )

IMPC - UCD

cardiovascular system

cornea vascularization ( J:211773 )

IMPC - UCD

embryo

abnormal placenta morphology ( J:211773 )

IMPC - UCD

growth/size/body

decreased body length ( J:211773 )

IMPC - UCD

liver/biliary system

abnormal liver morphology ( J:211773 )

♀

IMPC - UCD

small liver ( J:211773 )

♀

IMPC - UCD

nervous system

abnormal brain morphology ( J:211773 )

♂

IMPC - UCD

vision/eye

abnormal eye morphology ( J:211773 )

IMPC - UCD

cornea vascularization ( J:211773 )

IMPC - UCD

cornea opacity ( J:211773 )

♂

IMPC - UCD

microphthalmia ( J:211773 )

IMPC - UCD

anophthalmia ( J:211773 )

♀

IMPC - UCD

Genotype
MGI:3709574

ht11

• Allelic Composition: Pax6^Sey/Pax6⁺
• Genetic Background: C.Cg-Pax6^Sey

vision/eye

abnormal lens vesicle development ( J:119940 )

• at E11.5, lens pit or vesicle is smaller than in wild-type

• reduction in lens vesicle tissue volume is similar to that observed in Foxe3^dyl homozygotes, while in Foxe3-heterozygotes volume reduction is intermediate between homozygotes and wild-type

Genotype
MGI:3590308

ht12

• Allelic Composition: Pax6^4Neu/Pax6⁺
• Genetic Background: either: (involves: 102 * C3H) or (involves: C3H)

vision/eye

abnormal iris morphology ( J:73625 )

• abnormalities

irregularly shaped pupil ( J:73625 )

anterior iris synechia ( J:63651 )

cataract ( J:63651 )

anterior polar cataract ( J:73625 )

• anterior polar opacity very moderate

microphthalmia ( J:63651 , J:73625 )

• but very slight (J:73625)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Peters anomaly		DOID:0060673	OMIM:604229	J:73625

Genotype
MGI:3590307

ht13

• Allelic Composition: Pax6^3Neu/Pax6⁺
• Genetic Background: either: (involves: 102 * C3H) or (involves: C3H)

vision/eye

irregularly shaped pupil ( J:73625 )

• triangular shape

anterior iris synechia ( J:63651 )

cornea opacity ( J:21950 )

fused cornea and lens ( J:21950 )

• corneal lens attachment

cataract ( J:63651 )

anterior polar cataract ( J:21950 )

• anterior polar opacity

microphthalmia ( J:63651 , J:73625 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Peters anomaly		DOID:0060673	OMIM:604229	J:73625

Genotype
MGI:2175741

ht14

• Allelic Composition: Pax6^132-14Neu/Pax6⁺
• Genetic Background: involves: 101 * C3H

vision/eye

fused cornea and lens ( J:6686 )

• the remnants of the pupillary membrane connect the opacity with the cornea

abnormal lens vesicle development ( J:6686 )

• failure of lens vesicle to separate from ectoderm

cataract ( J:6686 )

• pyramidal opacity at anterior pole of lens; uni- or bilateral and incomplete penetrance

• the opacity frequently protrudes into the anterior chamber and attaches to the cornea

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cataract		DOID:83	OMIM:601371 OMIM:PS116200	J:6686

Genotype
MGI:4430208

ht15

• Allelic Composition: Pax6^Sey-4H/Pax6⁺
• Genetic Background: involves: 101/H * C3H/HeCrj * C3H/HeH

mortality/aging

premature death ( J:124276 )

• shorter life span

neoplasm

increased tumor incidence ( J:124276 )

• latency of tumor formation decreased by radiation exposure

increased alimentary system tumor incidence ( J:124276 )

• increased tumor incidence in the alimentary tract regardless of irradiation

increased intestinal adenoma incidence ( J:124276 )

• tubular adenomas and adenocarcinomas form at the junction between the pylorus and the duodenum or the posterior ileum

increased stomach tumor incidence ( J:124276 )

• squamous cell carcinomas form in the forestomach

endocrine/exocrine glands

increased susceptibility to induced pancreatitis ( J:124276 )

• develop acute or chronic pancreatitis when exposed to radiation

immune system

increased susceptibility to induced pancreatitis ( J:124276 )

• develop acute or chronic pancreatitis when exposed to radiation

digestive/alimentary system

increased alimentary system tumor incidence ( J:124276 )

• increased tumor incidence in the alimentary tract regardless of irradiation

increased intestinal adenoma incidence ( J:124276 )

• tubular adenomas and adenocarcinomas form at the junction between the pylorus and the duodenum or the posterior ileum

increased stomach tumor incidence ( J:124276 )

• squamous cell carcinomas form in the forestomach

Genotype
MGI:2175206

ht16

• Allelic Composition: Pax6^Sey-H/Pax6⁺
• Genetic Background: involves: 101/H * C3H/HeH

reproductive system

reduced female fertility ( J:8534 )

♀ • females are poor breeders

♀ • however, some embryo death may be associated with prenatal lethality

vision/eye

coloboma ( J:8534 )

• mice often develop coloboma visible by day 14

microphthalmia ( J:8534 )

hearing/vestibular/ear

lowered ear position ( J:8534 )

• one or both ears

small ears ( J:8534 )

• one or both ears

growth/size/body

lowered ear position ( J:8534 )

• one or both ears

small ears ( J:8534 )

• one or both ears

decreased body size ( J:8534 )

• at 2.5 weeks mice are smaller than normal

craniofacial

lowered ear position ( J:8534 )

• one or both ears

small ears ( J:8534 )

• one or both ears

pigmentation

belly spot ( J:8534 )

• some mice may have a white belly spot or streak

integument

belly spot ( J:8534 )

• some mice may have a white belly spot or streak

Genotype
MGI:2175208

ht17

• Allelic Composition: Pax6^Sey-Neu/Pax6⁺
• Genetic Background: involves: 102 * C3H

vision/eye

iris hypoplasia ( J:83026 )

• at E18.5, the iris is hypoplastic and the iridocorneal angle is obliterated by cells

abnormal cornea morphology ( J:83026 )

• the lens stalk persists and forms an epithelial plug in the cornea

• corneal degeneration worsens with age with older mice exhibiting more prominent subepithelial pannus and more goblet cells than younger mice

cornea vascularization ( J:83026 , J:114973 )

• many mice develop vascularized cornea or ones that contain cellular infiltrates unlike in wild-type mice (J:83026)

• mice exhibited spontaneous corneal vascularization (J:114973)

• corneal injection of sflt-1 (secreted isoform of the cell surface receptor membrane-bound Flt1) protein reduces the area of vascularization compared to untreated mutant mice (J:114973)

anterior iris synechia ( J:83026 )

• keratolenticular adhesions are present in the central cornea and between the anterior iris stroma and trabecullar meshwork between the iris stroma and the peripheral cornea, and between extensions of abnormal iris processes and the cornea

abnormal Bowman membrane morphology ( J:83026 )

• at P14, Bowman's layer is interrupted in some areas

abnormal cornea epithelium morphology ( J:83791 )

• unlike in wild-type mice, basal cells are more rounded and the cell layers are not packed tightly

• no goblet cells are observed

• adhesion between cells in the suprabasal middle and superficial layers is disrupted

decreased cornea epithelium thickness ( J:83026 , J:83791 , J:114973 )

• unlike in wild-type mice, the lens vesicle remains attached to the surface of the corneal epithelium by a persistent lens stalk (J:83026)

• at P14, the corneal epithelium is thinner (2 to 3 cell layers thick compared to 3 to 4 cell layers thick in wild-type mice) (J:83026)

• reduction in cell layers is apparent at P14 and P21 (J:83791)

• the corneal epithelium is 1 to 7 cell layers thick instead of 8 to 10 as in wild-type mice (J:83791)

• however, apoptosis rates are normal (J:83791)

abnormal cornea stroma morphology ( J:83026 , J:83791 )

• at E16.5 and E18.5, the stroma appears thicker and parallel arrangement is distorted toward the center of the cornea (J:83026)

• the stroma exhibits varied thickness and a general disorganizeation with large aggregates of laminn in the anterior region (J:83791)

abnormal cornea anterior stroma morphology ( J:83026 )

• hypercellular at fetal stages

• the anterior stroma sometimes appears edematous and in 2 of 4 mice the formation of pannus occurs in the superficial stroma

abnormal eye anterior chamber morphology ( J:83026 )

• by E14.5, the anterior chamber has not formed unlike in wild-type mice

• at E16.5, the center of the anterior chamber is interrupted by a persistent lens stalk

abnormal lens vesicle development ( J:83026 )

• unlike in wild-type mice, the lens vesicle remains attached to the surface of the corneal epithelium by a persistent lens stalk

microphthalmia ( J:83026 )

• eye weight is decreased (16.0+/-0.3 mg compared to 21.4+/-0.3 mg in wild-type mice)

cardiovascular system

cornea vascularization ( J:83026 , J:114973 )

• many mice develop vascularized cornea or ones that contain cellular infiltrates unlike in wild-type mice (J:83026)

• mice exhibited spontaneous corneal vascularization (J:114973)

• corneal injection of sflt-1 (secreted isoform of the cell surface receptor membrane-bound Flt1) protein reduces the area of vascularization compared to untreated mutant mice (J:114973)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
aniridia		DOID:12271	OMIM:PS106210	J:83026

Genotype
MGI:3613467

ht18

• Allelic Composition: Pax6^7Neu/Pax6⁺
• Genetic Background: involves: 102 * C3H

vision/eye

abnormal iris morphology ( J:73625 )

• dysplasia

irregularly shaped pupil ( J:73625 )

• triangular shape

anterior iris synechia ( J:63651 , J:73625 )

cataract ( J:73625 )

anterior polar cataract ( J:63651 )

• anterior polar opacity

microphthalmia ( J:63651 , J:73625 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Peters anomaly		DOID:0060673	OMIM:604229	J:73625

Genotype
MGI:3613473

ht19

• Allelic Composition: Pax6^2Neu/Pax6⁺
• Genetic Background: involves: 102 * C3H

vision/eye

abnormal pupil morphology ( J:73625 )

• triangular shaped pupil

anterior iris synechia ( J:63651 )

anterior polar cataract ( J:63651 )

• anterior polar opacity

microphthalmia ( J:63651 , J:73625 )

Genotype
MGI:3613474

ht20

• Allelic Composition: Pax6^5Neu/Pax6⁺
• Genetic Background: involves: 102 * C3H

vision/eye

abnormal pupil morphology ( J:73625 )

• triangular shaped pupil

anterior iris synechia ( J:63651 )

anterior polar cataract ( J:63651 )

• anterior polar opacity

microphthalmia ( J:63651 , J:73625 )

Genotype
MGI:3613475

ht21

• Allelic Composition: Pax6^8Neu/Pax6⁺
• Genetic Background: involves: 102 * C3H

vision/eye

abnormal pupil morphology ( J:73625 )

• triangular shaped pupil

microphthalmia ( J:73625 )

Genotype
MGI:3613476

ht22

• Allelic Composition: Pax6^9Neu/Pax6⁺
• Genetic Background: involves: 102 * C3H

vision/eye

abnormal pupil morphology ( J:73625 )

• triangular shaped pupil

microphthalmia ( J:73625 )

Genotype
MGI:3613477

ht23

• Allelic Composition: Pax6^10Neu/Pax6⁺
• Genetic Background: involves: 102 * C3H

vision/eye

abnormal pupil morphology ( J:73625 )

• triangular shaped pupil

microphthalmia ( J:73625 )

Genotype
MGI:3588509

ht24

• Allelic Composition: Pax6^6Neu/Pax6⁺
• Genetic Background: involves: 102 * C3H

vision/eye

abnormal pupil morphology ( J:73625 )

• triangular shaped pupil

anterior iris synechia ( J:63651 )

anterior polar cataract ( J:63651 )

• anterior polar opacity

microphthalmia ( J:63651 , J:73625 )

Genotype
MGI:4943211

ht25

• Allelic Composition: Pax6^3Neu/Pax6⁺
• Genetic Background: involves: 102 * C3H

vision/eye

cornea opacity ( J:151902 )

fused cornea and lens ( J:151902 )

microphthalmia ( J:151902 )

• mice exhibit hypoplasia in the telencephalic frontal area compared with wild-type mice

eye opacity ( J:151902 )

• central

nervous system

abnormal forebrain morphology ( J:151902 )

• mice exhibit reduced diameter of the marginal zone in the dorsal pallial region compared with wild-type mice

abnormal cortical ventricular zone morphology ( J:151902 )

• mice exhibit increased diameter of the ventricular and subventricular zone compared with wild-type mice

telencephalon hypoplasia ( J:151902 )

abnormal postnatal subventricular zone morphology ( J:151902 )

• mice exhibit increased diameter of the ventricular and subventricular zone compared with wild-type mice

Genotype
MGI:3771032

ht26

• Allelic Composition: Pax6^Sey-Neu/Pax6⁺
• Genetic Background: involves: 102 * C3H * C3H/HeN

vision/eye

abnormal lens morphology ( J:119175 )

• at E11.5, lens dysmorphia is observed

Genotype
MGI:3759850

ht27

• Allelic Composition: Pax6^tm1Lan/Pax6⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

vision/eye

abnormal lens vesicle development ( J:73524 )

• by E10.5, lens pit is intermediate in size between homozygotes and wild-type; at E11.5, lens separation defect is less severe than in homozygotes

abnormal optic placode morphology ( J:73524 )

• at E9.5, regional reduction in placodal thickness is observed with surface ectoderm apposed to optic vesicle being markedly thinner

Genotype
MGI:2386629

ht28

• Allelic Composition: Pax6^tm1Pgr/Pax6⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

vision/eye

abnormal iridocorneal angle ( J:163191 )

• the iris root completely covers the peripheral cornea to occlude the iridocorneal angle

anterior iris synechia ( J:163191 )

• iridocorneal adhesions are present in the region of the pupil

fused cornea and lens ( J:163191 )

• lens is attached to the cornea

absent eye anterior chamber ( J:163191 )

• anterior chamber is largely absent

Genotype
MGI:5512976

ht29

• Allelic Composition: Pax6^{tm2(Pax6_i5a,Pax2)Xzh}/Pax6⁺
• Genetic Background: involves: 129S6/SvEvTac

vision/eye

vision/eye phenotype ( J:198381 )

N • mice exhibit separation of lens and cornea at E14.5

Genotype
MGI:5512978

ht30

• Allelic Composition: Pax6^{tm2.1(Pax6_i5a,Pax2)Xzh}/Pax6⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N

vision/eye

corneal-lenticular stalk ( J:198381 )

Genotype
MGI:2674292

ht31

• Allelic Composition: Pax6^tm1Gfs/Pax6⁺
• Genetic Background: involves: 129S7/SvEvBrd

Aniridia in Pax6^tm1Gfs/Pax6⁺ and Pax6^tm1Gfs/Pax6^tm1Gfs mice

vision/eye

abnormal iris morphology ( J:76576 )

• iris cells are less compact than wild-type

mydriasis ( J:76576 )

iris hypoplasia ( J:76576 )

• mild iris hypoplasia

Genotype
MGI:3526886

ht32

• Allelic Composition: Pax6^Mhdaaey18/Pax6⁺
• Genetic Background: involves: C3HeB/FeJ

vision/eye

cataract ( J:82809 )

• mice heterozygous for this mutation have cataracts

microphthalmia ( J:82809 )

• heterozygous mice have small eyes

Genotype
MGI:4358887

ht33

• Allelic Composition: Pax6^Sey-Dey/Pax6⁺
• Genetic Background: involves: C3H/HeJ

mortality/aging

prenatal lethality, incomplete penetrance ( J:14117 )

• fewer than expected heterozygotes survive to birth

growth/size/body

decreased body length ( J:14117 )

• heterozygous embryos are on average 13% smaller than wild-type littermates in crown-rump length

vision/eye

coloboma ( J:14117 )

Genotype
MGI:3837673

ht34

• Allelic Composition: Pax6^m1Lsli/Pax6⁺
• Genetic Background: involves: C3H/HeJ * C57BL/6J

homeostasis/metabolism

impaired glucose tolerance ( J:146325 )

• at 6 months of age or older

abnormal hormone level ( J:146325 )

• alpha-melanocyte stimulating hormone is decreased in the hypothalamus compared to in wild-type mice

decreased adrenocorticotropin level ( J:146325 )

• in the hypothalamus

endocrine/exocrine glands

abnormal pancreas morphology ( J:146325 )

• as determined by insulin and glucagon staining

Genotype
MGI:3611340

ht35

• Allelic Composition: Pax6^ADD4802/Pax6⁺
• Genetic Background: involves: C3H * T STOCK

vision/eye

cornea opacity ( J:103785 )

• cornea is frequently opaque with a central dimple

fused cornea and lens ( J:103785 )

• the lens stalk connecting lens and cornea persist

• the anterior chamber is very small

• appear as a central depression on cornea

cataract ( J:103785 )

microphthalmia ( J:103785 )

• small eyes with vacuolated lenses

Genotype
MGI:3771036

ht36

• Allelic Composition: Pax6^Sey/Pax6⁺
• Genetic Background: involves: C57BL/6

vision/eye

abnormal optic cup morphology ( J:2301 )

• at E15, fissure of optic cup is often delayed in closing

• at E15, there is folding at the margin of the optic cup resulting in a keyhole-shaped opening

microphthalmia ( J:2301 )

• at E15 heterozygotes have smaller eyes than wild-type

Genotype
MGI:3798889

ht37

• Allelic Composition: Pax6^Rgsc123/Pax6⁺
• Genetic Background: involves: C57BL/6JJcl * DBA/2JJcl

vision/eye

developmental cataract ( J:133634 )

• mice heterozygous for this mutation exhibit congenital cataract

microphthalmia ( J:133634 )

Genotype
MGI:3798480

ht38

• Allelic Composition: Pax6^Rgsc20/Pax6⁺
• Genetic Background: involves: C57BL/6JJcl * DBA/2JJcl

vision/eye

developmental cataract ( J:133634 )

• mice heterozygous for this mutation present with congenital cataract

microphthalmia ( J:133634 )

Genotype
MGI:3799164

ht39

• Allelic Composition: Pax6^Rgsc242/Pax6⁺
• Genetic Background: involves: C57BL/6JJcl * DBA/2JJcl

vision/eye

developmental cataract ( J:133634 )

• mice heterozygous for this mutation have congenital cataracts

microphthalmia ( J:133634 )

• mutant mice have small eyes

Genotype
MGI:2175202

ht40

• Allelic Composition: Pax6^Sey-3H/Pax6⁺
• Genetic Background: Not Specified

mortality/aging

perinatal lethality, incomplete penetrance ( J:69257 )

• fewer than expected numbers at birth

postnatal lethality, incomplete penetrance ( J:69257 )

• survival to weaning age is reduced

pigmentation

white spotting ( J:69257 )

• low grade white spotting

growth/size/body

decreased birth body size ( J:69257 )

• small at birth

integument

white spotting ( J:69257 )

• low grade white spotting

Genotype
MGI:2170872

ht41

• Allelic Composition: Pax6^Sey/Pax6⁺
• Genetic Background: Not Specified

Development of the Pax6^Sey/Pax6⁺ lens

vision/eye

abnormal optic nerve morphology ( J:22316 )

• myelinated nerve counts lower than in controls

• cross sectional area in males significantly smaller than in controls

abnormal anterior eye segment morphology ( J:71087 )

• display a persistent plug of ectoderm linking the corneal and anterior lens epithelia at E16.6

• the lens-corneal bridge exhibits high levels of apoptosis but normal proliferation

abnormal cornea epithelium morphology ( J:5093 )

• hypertrophy

abnormal eye anterior chamber morphology ( J:71087 )

• reduced anterior chamber, with multiple sites of adhesion between the anterior surface of the lens and the corneal endothelium

abnormal lens morphology ( J:71087 )

• the lens shows evidence of degeneration

abnormal lens development ( J:71087 )

• the lens is developmentally delayed

abnormal lens vesicle development ( J:71087 )

• persistence of the lens vesicular cavity

abnormal lens epithelium morphology ( J:5093 )

• hypertrophy

abnormal lens fiber morphology ( J:71087 )

• extensive vacuolation of the primary lens fibers

delayed eyelid fusion ( J:71087 )

• delayed fusion of the eyelids

microphthalmia ( J:71087 , J:12101 )

• microphthalmia, but highly variable from almost unnoticeable to very small (J:12101)

• never anophthalmic (J:12101)

abnormal retina morphology ( J:5093 )

abnormal retina pigment epithelium morphology ( J:5093 )

• frequently necrotic in adults

abnormal retina photoreceptor layer morphology ( J:5093 )

• sensory cells in only 15% of eyes

growth/size/body

decreased body size ( J:12101 )

• reduced size

nervous system

abnormal optic nerve morphology ( J:22316 )

• myelinated nerve counts lower than in controls

• cross sectional area in males significantly smaller than in controls

pigmentation

abnormal retina pigment epithelium morphology ( J:5093 )

• frequently necrotic in adults

Genotype
MGI:2175201

ht42

• Allelic Composition: Pax6^Sey-2H/Pax6⁺
• Genetic Background: Not Specified

mortality/aging

perinatal lethality, incomplete penetrance ( J:69257 )

• fewer than expected numbers at birth

postnatal lethality, incomplete penetrance ( J:69257 )

• survival to weaning age is reduced

embryonic lethality, incomplete penetrance ( J:69257 )

• some post-implantation loss

pigmentation

white spotting ( J:69257 )

• low grade white spotting

growth/size/body

decreased birth body size ( J:69257 )

• small at birth

nervous system

exencephaly ( J:69257 )

• incomplete penetrance

integument

white spotting ( J:69257 )

• low grade white spotting

Genotype
MGI:4821787

cn43

• Allelic Composition: Pax6^tm2Pgr/Pax6⁺; Tg(Pax6-cre,GFP)2Pgr/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

vision/eye

vision/eye phenotype ( J:163191 )

N • mice exhibit no defects in the iridocorneal angle, trabecular meshwork and Schlemm's canal

abnormal iris stroma morphology ( J:163191 )

• the stroma of the iris is thinner

Genotype
MGI:4358212

cn44

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

vision/eye

impaired pupillary reflex ( J:152253 )

• iris does not respond to pilocarpine

abnormal intraocular muscle morphology ( J:152253 )

• iris sphincter muscle is markedly atrophied

irregularly shaped pupil ( J:152253 )

• margins are abnormally smooth with lack of pupillary ruffs

mydriasis ( J:152253 )

iris hypoplasia ( J:152253 )

• severe; iris fails to enlongate resulting in enlarged pupils; length is about 47% of wild-type

muscle

abnormal intraocular muscle morphology ( J:152253 )

• iris sphincter muscle is markedly atrophied

behavior/neurological

impaired pupillary reflex ( J:152253 )

• iris does not respond to pilocarpine

Genotype
MGI:4358213

cn45

• Allelic Composition: Pax6^tm2Pgr/Pax6⁺; Tg(CAG-EGFP,-Pax6,-lacZ)1Stoy/0; Tg(Dct-cre)1Apdn/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

vision/eye

abnormal ciliary body morphology ( J:152253 )

• ciliary body varies from normal in appearance to reduced folding compared to Pax6 ^tm2Pgr/+; Tg(Dct-cre)1Apdn animals

abnormal iris morphology ( J:152253 )

• iris sphincter appearance is significantly, but variably improved compared to Pax6 ^tm2Pgr/+; Tg(Dct-cre)1Apdn

iris hypoplasia ( J:152253 )

• expression of transgenic Pax6 corrects iris length almost completely in Pax6^tm2Pgr/+; Tg(Dct-cre)1Apdn animals (length is 92% of wild-type)

Genotype
MGI:4358214

cn46

• Allelic Composition: Pax6^tm2Pgr/Pax6⁺; Tg(CAG-EGFP,-Pax6*5a,-lacZ)1Stoy/0; Tg(Dct-cre)1Apdn/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

vision/eye

abnormal iris morphology ( J:152253 )

• iris sphincter appearance is improved very slightly compared to Pax6^tm2Pgr/+; Tg(Dct-cre) animals

iris hypoplasia ( J:152253 )

• expression of transgenic Pax6 partially corrects iris length in Pax6^tm2Pgr/+; Tg(Dct-cre) animals (length is 73% of wild-type)

Genotype
MGI:4821786

cn47

• 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:3771033

cx48

• Allelic Composition: Pax6^Sey-Neu/Pax6⁺; Sox2^tm1.1Vep/Sox2⁺
• Genetic Background: involves: 102 * C3H * C3H/HeN

vision/eye

abnormal lens morphology ( J:119175 )

• at E11.5, lens dysmorphia is observed but is no more severe than in Pax6^Sey-Neu heterozygotes

Genotype
MGI:5316883

cx49

• Allelic Composition: Mitf^tm3.1Arnh/Mitf^tm3.1Arnh; Pax6^Sey-Neu/Pax6⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6N

vision/eye

abnormal retina pigment epithelium morphology ( J:188155 )

• dorsal thickening observed at E11.5 becoming prominent at E13.5

• trans-differentiating retinal pigment epithelium cells generate differentiated retinal cells by birth

pigmentation

abnormal retina pigment epithelium morphology ( J:188155 )

• dorsal thickening observed at E11.5 becoming prominent at E13.5

• trans-differentiating retinal pigment epithelium cells generate differentiated retinal cells by birth

Genotype
MGI:5316878

cx50

• Allelic Composition: Mitf^mi-vga9/Mitf^mi-vga9; Pax6^Sey-Neu/Pax6⁺
• Genetic Background: involves: C57BL/6 * CBA

vision/eye

abnormal retina pigment epithelium morphology ( J:188155 )

• trans-differentiating retinal pigment epithelium cells generate differentiated retinal cells by birth

pigmentation

abnormal retina pigment epithelium morphology ( J:188155 )

• trans-differentiating retinal pigment epithelium cells generate differentiated retinal cells by birth

Genotype
MGI:5316876

cx51

• Allelic Composition: Mitf^mi-vga9/Mitf⁺; Pax6^Sey-Neu/Pax6⁺
• Genetic Background: involves: C57BL/6 * CBA

vision/eye

abnormal retina pigment epithelium morphology ( J:188155 )

• dorsal thickening observed at E13.5

pigmentation

abnormal retina pigment epithelium morphology ( J:188155 )

• dorsal thickening observed at E13.5