Symbol
Name
ID

Pax6
paired box 6
MGI:97490

Phenotype annotations related to vision/eye

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Keratitis

Abnormal corneal limbus morphology

Opacification of the corneal stroma

Microcornea

Corneal neovascularization

Corneal opacity

Cataract

Nuclear cataract

Lens subluxation

Aniridia

Hypoplastic iris stroma

Iris coloboma

Limbal stem cell deficiency

Peters anomaly

Chorioretinal coloboma

Optic disc coloboma

Optic nerve aplasia

Optic nerve hypoplasia

Morning glory anomaly

Hypoplasia of the fovea

Aplasia/Hypoplasia of the macula

Macular hypoplasia

Macular coloboma

Retinal coloboma

Retinal detachment

Remnants of the hyaloid vascular system

Microphthalmia

Bilateral microphthalmos

Coloboma

Esotropia

Exotropia

Hypertropia

Nystagmus

Congenital nystagmus

Abnormality of refraction

Visual impairment

Reduced visual acuity

Visual loss

Glaucoma

Disease(s) Associated with PAX6

aniridia

autosomal dominant keratitis

bilateral optic nerve hypoplasia

cataract

coloboma

coloboma of optic nerve

Mouse Phenotypes

vision/eye phenotype

impaired pupillary reflex

corneal vascularization

increased lens epithelium apoptosis

increased retina apoptosis

abnormal lacrimal gland morphology

abnormal intraocular muscle morphology

absent amacrine cells

abnormal optic nerve morphology

optic nerve degeneration

optic nerve hypoplasia

abnormal retina pigment epithelium morphology

decreased eye pigmentation

abnormal eye morphology

abnormal anterior eye segment morphology

abnormal iridocorneal angle

absent Schlemm's canal

absent trabecular meshwork

abnormal ciliary body morphology

absent ciliary body

abnormal iris morphology

abnormal iris stroma morphology

abnormal pupil morphology

irregularly shaped pupil

mydriasis

aniridia

iris hypoplasia

anterior iris synechia

abnormal cornea morphology

abnormal Bowman membrane morphology

increased cornea thickness

abnormal corneal endothelium morphology

abnormal corneal epithelium morphology

decreased corneal epithelium thickness

abnormal corneal stroma morphology

abnormal cornea anterior stroma morphology

corneal opacity

corneal-lenticular stalk

fused cornea and lens

abnormal eye anterior chamber morphology

absent eye anterior chamber

abnormal lens morphology

abnormal lens development

abnormal lens induction

abnormal lens vesicle development

absent lens vesicle

abnormal optic placode morphology

absent optic placodes

abnormal lens epithelium morphology

abnormal lens fiber morphology

aphakia

cataract

developmental cataract

anterior polar cataract

small lens

abnormal eye development

delayed eyelid fusion

abnormal optic cup morphology

abnormal optic vesicle formation

abnormal retina development

abnormal retina progenitor cell morphology

coloboma

abnormal eye size

microphthalmia

abnormal retina morphology

abnormal retina layer morphology

abnormal retina ganglion layer morphology

abnormal retina photoreceptor layer morphology

decreased total retina thickness

retina fold

retina hypoplasia

abnormal vitreous body morphology

increased opacity of vitreous body

anophthalmia

eye opacity

abnormal eye physiology

ocular hypertension

blindness

Availability

Mouse Genotype

Pax6^2Neu/Pax6^2Neu

Pax6^3Neu/Pax6^3Neu

Pax6^4Neu/Pax6^4Neu

Pax6^5Neu/Pax6^5Neu

Pax6^6Neu/Pax6^6Neu

Pax6^7Neu/Pax6^7Neu

Pax6^8Neu/Pax6^8Neu

Pax6^9Neu/Pax6^9Neu

Pax6^10Neu/Pax6^10Neu

Pax6^132-14Neu/Pax6^132-14Neu

Pax6^Aey80/Pax6^Aey80

Pax6^Coop/Pax6^Coop

Pax6^em1(IMPC)Mbp/Pax6^em1(IMPC)Mbp

Pax6^Leca1/Pax6^Leca1

Pax6^Leca2/Pax6^Leca2

Pax6^Leca3/Pax6^Leca3

Pax6^Leca4/Pax6^Leca4

Pax6^Mhdaaey11/Pax6^Mhdaaey11

Pax6^Sey-Neu/Pax6^Sey-Neu

Pax6^Sey/Pax6^Sey

Pax6^tm1.1Ued/Pax6^tm1.1Ued

Pax6^tm1.1Xzh/Pax6^tm1.1Xzh

Pax6^tm1.2Xzh/Pax6^tm1.2Xzh

Pax6^tm1Gfs/Pax6^tm1Gfs

Pax6^tm1Lan/Pax6^tm1Lan

Pax6^tm1Pgr/Pax6^tm1Pgr

Pax6^1Jrt/Pax6⁺

Pax6^2Neu/Pax6⁺

Pax6^3Neu/Pax6⁺

Pax6^4Neu/Pax6⁺

Pax6^5Neu/Pax6⁺

Pax6^6Neu/Pax6⁺

Pax6^7Neu/Pax6⁺

Pax6^8Neu/Pax6⁺

Pax6^9Neu/Pax6⁺

Pax6^10Neu/Pax6⁺

Pax6^132-14Neu/Pax6⁺

Pax6^ADD4802/Pax6⁺

Pax6^Aey80/Pax6⁺

Pax6^Coop/Pax6⁺

Pax6^em1(IMPC)Mbp/Pax6⁺

Pax6^Mhdaaey18/Pax6⁺

Pax6^Rgsc20/Pax6⁺

Pax6^Rgsc123/Pax6⁺

Pax6^Rgsc242/Pax6⁺

Pax6^Sey-Dey/Pax6⁺

Pax6^Sey-Dey/Pax6^Sey

Pax6^Sey-Neu/Pax6⁺

Pax6^Sey-Neu/Pax6^tm1.1Zkoz

Pax6^Sey/Pax6⁺

Pax6^tm1Gfs/Pax6⁺

Pax6^tm1Lan/Pax6⁺

Pax6^tm1Pgr/Pax6⁺

Pax6^tm1.1Zkoz/Pax6^tm1.1Zkoz
Tg(Rax-cre)1Zkoz/0 (conditional)

Pax6^tm1.1Zkoz/Pax6^tm1.1Zkoz
Tg(Pax6-cre,GFP)2Pgr/0 (conditional)

Pax6^tm2Pgr/Pax6^tm2Pgr
Tg(Dct-cre)1Apdn/0 (conditional)

Pax6^tm2Pgr/Pax6^tm2Pgr
Tg(Cryaa-cre)10Mlr/0 (conditional)

Pax6^tm1.1Zkoz/Pax6^Sey-Neu
Tg(Rax-cre)1Zkoz/0 (conditional)

Pax6^tm1Pgr/Pax6^tm2Pgr
Tg(Pax6-cre,GFP)1Pgr/0 (conditional)

Pax6^tm2Pgr/Pax6⁺
Tg(Dct-cre)1Apdn/0 (conditional)

Pax6^tm2Pgr/Pax6⁺
Tg(CAG-EGFP,-Pax6,-lacZ)1Stoy/0
Tg(Dct-cre)1Apdn/0 (conditional)

Pax6^tm2Pgr/Pax6⁺
Tg(CAG-EGFP,-Pax6*5a,-lacZ)1Stoy/0
Tg(Dct-cre)1Apdn/0 (conditional)

Pax6^tm2Pgr/Pax6⁺
Tg(Pax6-cre,GFP)1Pgr/0 (conditional)

Pax6^tm2Pgr/Pax6⁺
Tg(Pax6-cre,GFP)2Pgr/0 (conditional)

Tg(CAG-EGFP,-Pax6*5a,-lacZ)1Stoy/0
Tg(Dct-cre)1Apdn/0 (conditional)

Tg(CAG-EGFP,-Pax6,-lacZ)1Stoy/0
Tg(Dct-cre)1Apdn/0 (conditional)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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