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Symbol
Name
ID

Pax2
paired box 2
MGI:97486

Phenotype annotations related to nervous system

*	Aspects of the system are reported to show a normal phenotype.
!	Indicates phenotype varies with strain background.
	Darker colors indicate more annotations

Human Phenotypes	Gliosis	Chiari type I malformation	Intellectual disability	Seizure
Disease(s) Associated with PAX2
renal coloboma syndrome

Mouse Phenotypes

nervous system phenotype

abnormal axon extension

abnormal neural crest morphology

abnormal neural tube closure

delayed neural tube closure

incomplete rostral neuropore closure

abnormal brain morphology

abnormal brain development

abnormal midbrain-hindbrain boundary morphology

absent midbrain-hindbrain boundary

abnormal choroid plexus morphology

abnormal brain commissure morphology

abnormal optic tract morphology

abnormal midbrain morphology

abnormal corpora quadrigemina morphology

absent tectum

abnormal diencephalon morphology

absent cerebellum

abnormal optic nerve innervation

abnormal vestibulocochlear ganglion morphology

exencephaly

decreased retina ganglion cell number

absent cochlear ganglion

small vestibular ganglion

abnormal optic nerve morphology

absent optic chiasm

abnormal optic disk morphology

optic disk coloboma

optic nerve coloboma

absent cochlear nerve

Availability

Mouse Genotype

Pax2^1Neu/Pax2^1Neu

Pax2^M1Bpb/Pax2^M1Bpb

*

Pax2^tm1.1Gdr/Pax2^tm1.1Gdr

Pax2^tm1Cjt/Pax2^tm1Cjt

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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