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Symbol
Name
ID
Pax6
paired box 6
MGI:97490
Phenotype annotations related to nervous system
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Optic nerve hypoplasia
Ventriculomegaly
Disease(s) Associated with PAX6
bilateral optic nerve hypoplasia
coloboma

Mouse Phenotypes
nervous system phenotype
abnormal neuron differentiation
abnormal brain morphology
abnormal brain development
abnormal forebrain development
abnormal telencephalon development
thin cortical plate
abnormal cortical ventricular zone morphology
abnormal pallium development
abnormal cerebellum external granule cell layer morphology
abnormal brain commissure morphology
abnormal brain internal capsule morphology
abnormal pretectal region morphology
abnormal forebrain morphology
abnormal diencephalon morphology
small thalamus
abnormal telencephalon morphology
abnormal cerebral cortex morphology
thin cerebral cortex
absent olfactory bulb
telencephalon hypoplasia
abnormal cerebellum morphology
ectopic Purkinje cell
abnormal cerebellar granule cell morphology
abnormal cerebellum vermis morphology
abnormal postnatal subventricular zone morphology
abnormal embryonic/fetal subventricular zone morphology
exencephaly
absent amacrine cells
abnormal ventral interneuron morphology
abnormal ventral interneuron 0 morphology
abnormal ventral interneuron 1 morphology
abnormal ventral interneuron 3 morphology
abnormal olfactory nerve morphology
abnormal optic nerve morphology
optic nerve degeneration
optic nerve hypoplasia
abnormal neuron physiology
abnormal synaptic transmission
abnormal CNS synaptic transmission
Availability Mouse Genotype
Pax64Neu/Pax64Neu
Pax6Mhdaaey18/Pax6Mhdaaey18
Pax6Sey-Neu/Pax6Sey-Neu
Pax6Sey/Pax6Sey
Pax6tm1.1Ued/Pax6tm1.1Ued
Pax6tm1Gfs/Pax6tm1Gfs *
Pax6tm1Pgr/Pax6tm1Pgr
Pax63Neu/Pax6+
Pax6em1(IMPC)Mbp/Pax6+
Pax6Sey-2H/Pax6+
Pax6Sey-Dey/Pax6+
Pax6Sey/Pax6+
Pax6tm1.1Zkoz/Pax6tm1.1Zkoz
Tg(Rax-cre)1Zkoz/0  (conditional)
Pax6tm1Ued/Pax6tm1Ued
Tg(Six3-cre)69Frty/0  (conditional)
Pax6tm2Pgr/Pax6+
Tg(Pax6-cre,GFP)1Pgr/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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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory