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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
Keratoconjunctivitis sicca
Retinal vascular tortuosity
Corneal erosion
Keratitis
Abnormal corneal limbus morphology
Opacification of the corneal stroma
Microcornea
Corneal neovascularization
Corneal opacity
Microspherophakia
Lens coloboma
Cataract
Presenile cataracts
Anterior subcapsular cataract
Nuclear cataract
Ectopia lentis
Ectopia pupillae
Aniridia
Hypoplasia of the iris
Hypoplastic iris stroma
Limbal stem cell deficiency
Peters anomaly
Chorioretinal hypopigmentation
Optic disc coloboma
Optic nerve aplasia
Optic nerve hypoplasia
Morning glory anomaly
Hypoplasia of the fovea
Aplasia/Hypoplasia of the macula
Macular agenesis
Macular hypoplasia
Retinal detachment
Hypopigmentation of the fundus
Abnormal foveal pit on macular OCT
Remnants of the hyaloid vascular system
Microphthalmia
Bilateral microphthalmos
Coloboma
Abnormal full-field electroretinogram
Abnormal multifocal electroretinogram
Strabismus
Exotropia
Nystagmus
Congenital nystagmus
Abnormality of refraction
Red-green dyschromatopsia
Photophobia
Visual impairment
Reduced visual acuity
Visual loss
Glaucoma
Ptosis
Bilateral ptosis
Disease(s) Associated with PAX6
aniridia
aniridia 1
autosomal dominant keratitis
bilateral optic nerve hypoplasia
cataract
coloboma of optic nerve
foveal hypoplasia 1

Mouse Phenotypes
vision/eye phenotype
impaired pupillary reflex
cornea vascularization
increased lens epithelium apoptosis
increased retina apoptosis
abnormal lacrimal gland morphology
increased corneal pannus formation
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
abnormal cornea endothelium morphology
abnormal cornea epithelium morphology
decreased cornea epithelium thickness
increased cornea thickness
abnormal cornea stroma morphology
abnormal cornea anterior stroma morphology
cornea 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
Pax62Neu/Pax62Neu
Pax63Neu/Pax63Neu
Pax64Neu/Pax64Neu
Pax65Neu/Pax65Neu
Pax66Neu/Pax66Neu
Pax67Neu/Pax67Neu
Pax68Neu/Pax68Neu
Pax69Neu/Pax69Neu
Pax610Neu/Pax610Neu
Pax6132-14Neu/Pax6132-14Neu
Pax6Aey80/Pax6Aey80
Pax6Coop/Pax6Coop
Pax6em1(IMPC)Mbp/Pax6em1(IMPC)Mbp
Pax6Leca1/Pax6Leca1
Pax6Leca2/Pax6Leca2
Pax6Leca3/Pax6Leca3
Pax6Leca4/Pax6Leca4
Pax6Mhdaaey11/Pax6Mhdaaey11
Pax6Sey-Neu/Pax6Sey-Neu
Pax6Sey/Pax6Sey
Pax6tm1.1Ued/Pax6tm1.1Ued
Pax6tm1.1Xzh/Pax6tm1.1Xzh *
Pax6tm1.2Xzh/Pax6tm1.2Xzh
Pax6tm1Gfs/Pax6tm1Gfs
Pax6tm1Lan/Pax6tm1Lan
Pax6tm1Pgr/Pax6tm1Pgr
Pax61Jrt/Pax6+
Pax62Neu/Pax6+
Pax63Neu/Pax6+
Pax64Neu/Pax6+
Pax65Neu/Pax6+
Pax66Neu/Pax6+
Pax67Neu/Pax6+
Pax68Neu/Pax6+
Pax69Neu/Pax6+
Pax610Neu/Pax6+
Pax6132-14Neu/Pax6+
Pax6ADD4802/Pax6+
Pax6Aey80/Pax6+ *
Pax6Coop/Pax6+
Pax6em1(IMPC)Mbp/Pax6+
Pax6Mhdaaey18/Pax6+
Pax6Rgsc20/Pax6+
Pax6Rgsc123/Pax6+
Pax6Rgsc242/Pax6+
Pax6Sey-Dey/Pax6+
Pax6Sey-Dey/Pax6Sey
Pax6Sey-Neu/Pax6+
Pax6Sey-Neu/Pax6tm1.1Zkoz
Pax6Sey/Pax6+
Pax6tm1Gfs/Pax6+
Pax6tm1Lan/Pax6+
Pax6tm1Pgr/Pax6+
Pax6tm1.1Zkoz/Pax6tm1.1Zkoz
Tg(Rax-cre)1Zkoz/0  (conditional)		 *
Pax6tm1.1Zkoz/Pax6tm1.1Zkoz
Tg(Pax6-cre,GFP)2Pgr/0  (conditional)
Pax6tm2Pgr/Pax6tm2Pgr
Tg(Dct-cre)1Apdn/0  (conditional)
Pax6tm2Pgr/Pax6tm2Pgr
Tg(Cryaa-cre)10Mlr/0  (conditional)
Pax6tm1.1Zkoz/Pax6Sey-Neu
Tg(Rax-cre)1Zkoz/0  (conditional)
Pax6tm1Pgr/Pax6tm2Pgr
Tg(Pax6-cre,GFP)1Pgr/0  (conditional)
Pax6tm2Pgr/Pax6+
Tg(Dct-cre)1Apdn/0  (conditional)
Pax6tm2Pgr/Pax6+
Tg(CAG-EGFP,-Pax6,-lacZ)1Stoy/0
Tg(Dct-cre)1Apdn/0  (conditional)
Pax6tm2Pgr/Pax6+
Tg(CAG-EGFP,-Pax6*5a,-lacZ)1Stoy/0
Tg(Dct-cre)1Apdn/0  (conditional)
Pax6tm2Pgr/Pax6+
Tg(Pax6-cre,GFP)1Pgr/0  (conditional)
Pax6tm2Pgr/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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Send questions and comments to User Support. 		last database update
03/18/2025
MGI 6.24 		The Jackson Laboratory