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Symbol
Name
ID

Pax2
paired box 2
MGI:97486

Phenotype annotations related to vision/eye

!	Indicates phenotype varies with strain background.
	Darker colors indicate more annotations

Human Phenotypes

Cataract

Lens luxation

Chorioretinal atrophy

Optic disc coloboma

Morning glory anomaly

Optic nerve dysplasia

Macular hyperpigmentation

Macular degeneration

Retinal coloboma

Retinal detachment

Scleral staphyloma

Microphthalmia

Strabismus

Nystagmus

Myopia

High myopia

Visual impairment

Reduced visual acuity

Disease(s) Associated with PAX2

renal coloboma syndrome

Mouse Phenotypes

abnormal retina vasculature morphology

abnormal retina blood vessel morphology

abnormal retina blood vessel pattern

abnormal optic nerve innervation

decreased retina ganglion cell number

abnormal optic nerve morphology

absent optic chiasm

abnormal optic disk morphology

optic disk coloboma

optic nerve coloboma

abnormal retina pigment epithelium morphology

abnormal retina pigmentation

abnormal eye morphology

abnormal eye development

abnormal optic fissure closure

delayed optic fissure closure

abnormal optic stalk morphology

coloboma

uveal coloboma

abnormal retina morphology

abnormal retina layer morphology

abnormal retina neuronal layer morphology

thin retina ganglion layer

abnormal retina nerve fiber layer morphology

Availability

Mouse Genotype

Pax2^1Neu/Pax2^1Neu

Pax2^M1Bpb/Pax2^M1Bpb

Pax2^tm1Mbu/Pax2^tm1Mbu

Pax2^tm1Pgr/Pax2^tm1Pgr

!

!

Pax2^1Neu/Pax2⁺

Pax2^M1Bpb/Pax2⁺

!

Pax2^Opdc/Pax2⁺

Pax2^tm1Pgr/Pax2⁺

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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