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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Pax2
paired box 2
MGI:97486
130 phenotypes from 8 alleles in 15 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Pax21Neu/Pax2+
involves: 102 		increased kidney apoptosis J:136502
increased pancreatic beta cell mass J:89465
increased pancreatic islet number J:89465
pancreatic islet hyperplasia J:89465
Pax21Neu/Pax2+
involves: 102 * C3H 		abnormal optic disk morphology J:37055
abnormal retina layer morphology J:37055
abnormal retina nerve fiber layer morphology J:37055
abnormal retina neuronal layer morphology J:37055
abnormal retina vasculature morphology J:37055
decreased retina ganglion cell number J:37055
kidney cyst J:37055
single kidney J:37055
small kidney J:37055
thin retina ganglion layer J:37055
Pax21Neu/Pax2+
involves: 102 * C57BL/6 		abnormal kidney development J:86661
abnormal nephrogenic zone morphology J:59408
absent kidney J:86661
decreased nephron number J:59408, J:86661
decreased renal glomerulus number J:59408, J:86661
impaired branching involved in ureteric bud morphogenesis J:59408
increased kidney apoptosis J:59408, J:86661
kidney cyst J:59408
kidney medulla hypoplasia J:59408
lethality throughout fetal growth and development, incomplete penetrance J:86661
postnatal lethality, incomplete penetrance J:86661
renal hypoplasia J:59408
single kidney J:59408
small kidney J:59408, J:86661
Pax21Neu/Pax2+
involves: 102 * CD-1 		abnormal ureter morphology J:145105
bifid ureter J:145105
dilated ureter J:145105
double ureter J:145105
ectopic ureteric bud J:145105
hydroureter J:145105
small kidney J:145105
vesicoureteral reflux J:145105
Pax21Neu/Pax2+
Tg(Hoxb7-EGFP)33Cos/?
involves: 102 * C57BL/6 * CBA * CD-1 		abnormal ureter development J:145105
abnormal ureteric bud morphology J:145105
duplex kidney J:145105
ectopic ureteric bud J:145105
impaired branching involved in ureteric bud morphogenesis J:145105
Pax21Neu/Pax21Neu
involves: 102 		normal endocrine/exocrine gland phenotype J:77446
increased pancreatic beta cell mass J:89465
increased pancreatic islet number J:89465
neonatal lethality, complete penetrance J:89465
pancreatic islet hyperplasia J:89465
Pax21Neu/Pax21Neu
involves: 102 * C3H 		abnormal brain development J:37055
abnormal choroid plexus morphology J:37055
abnormal corpora quadrigemina morphology J:37055
abnormal inner ear development J:37055
abnormal inner ear morphology J:37055
abnormal kidney development J:37055
abnormal metanephric mesenchyme morphology J:37055
abnormal midbrain morphology J:37055
abnormal optic nerve morphology J:37055
abnormal optic stalk morphology J:37055
abnormal vestibulocochlear ganglion morphology J:37055
absent cerebellum J:37055
absent midbrain-hindbrain boundary J:37055
absent semicircular canal ampulla J:37055
absent utricle J:37055
delayed neural tube closure J:37055
dilated endolymphatic duct J:37055
exencephaly J:37055
Pax2M1Bpb/Pax2+
C57BL/6-Pax2M1Bpb 		abnormal eye development J:159240
abnormal midbrain-hindbrain boundary morphology J:159240
abnormal optic disk morphology J:159240
abnormal optic nerve morphology J:159240
abnormal renal tubule morphology J:159240
abnormal retina blood vessel morphology J:159240
abnormal retina blood vessel pattern J:159240
abnormal retina morphology J:159240
abnormal retina pigment epithelium morphology J:159240
hydronephrosis J:159240
hydroureter J:159240
kidney cyst J:159240
renal hypoplasia J:159240
Pax2M1Bpb/Pax2+
involves: C3H/HeJ * C57BL/6 		abnormal optic nerve morphology J:159240
Pax2M1Bpb/Pax2M1Bpb
C57BL/6-Pax2M1Bpb 		abnormal kidney development J:159240
abnormal midbrain-hindbrain boundary morphology J:159240
abnormal neural crest morphology J:159240
delayed optic fissure closure J:159240
lethality throughout fetal growth and development, incomplete penetrance J:159240
normal nervous system phenotype J:159240
perinatal lethality, complete penetrance J:159240
renal hypoplasia J:159240
uveal coloboma J:159240
Pax2Opdc/Pax2+
involves: BALB/cAnN * C3H/HeN 		abnormal eye morphology J:75964
abnormal optic nerve morphology J:75964
optic disk coloboma J:75964
Pax2tm1.1Gdr/Pax2tm1.1Gdr
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 		abnormal kidney development J:184878
absent kidney J:184878
exencephaly J:184878
neonatal lethality, complete penetrance J:184878
Pax2tm1Cjt/Pax2tm1Cjt
involves: 129S1/Sv * C57BL/6J 		abnormal inner ear morphology J:74492
absent cochlea J:74492
absent cochlear ganglion J:74492
absent kidney J:74492
absent ureter J:74492
Pax2tm1Gdr/Pax2tm1.1Gdr
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 		abnormal kidney development J:184878
neonatal lethality, complete penetrance J:184878
Pax2tm1Gdr/Pax2tm1Gdr
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 		abnormal kidney lobule morphology J:184878
decreased nephron number J:184878
double ureter J:184878
kidney medulla cyst J:184878
renal hypoplasia J:184878
Pax2tm1Mbu/Pax2tm1Mbu
C3.129P2-Pax2tm1Mbu 		abnormal brain commissure morphology J:63683
abnormal brain development J:63683
abnormal inner ear morphology J:63683
abnormal midbrain morphology J:63683
abnormal optic fissure closure J:63683
abnormal otolith organ morphology J:63683
abnormal retina morphology J:63683
abnormal retina pigmentation J:63683
absent cerebellum J:63683
absent cochlea J:63683
absent cochlear ganglion J:63683
absent epididymis J:63683
absent kidney J:63683
absent midbrain-hindbrain boundary J:63683
absent oviduct J:63683
absent seminal vesicle J:63683
absent tectum J:63683
absent ureter J:63683
absent uterus J:63683
absent vagina J:63683
absent vas deferens J:63683
absent vestibular saccule J:63683
Mullerian duct degeneration J:63683
perinatal lethality, complete penetrance J:63683
Wolffian duct degeneration J:63683
Pax2tm1Pgr/Pax2+
involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J 		abnormal cochlea morphology J:119574
abnormal inner ear morphology J:119574
decreased cochlea coiling J:119574
Pax2tm1Pgr/Pax2+
involves: 129S1/Sv * 129X1/SvJ 		abnormal kidney calyx morphology J:30343
decreased nephron number J:30343
exencephaly J:36834
normal hearing/vestibular/ear phenotype J:36834
kidney cortex hypoplasia J:30343
optic nerve coloboma J:36834
renal hypoplasia J:30343
small kidney J:30343
Pax2tm1Pgr/Pax2+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J 		abnormal cochlea morphology J:119574
abnormal inner ear morphology J:119574
decreased cochlea coiling J:119574
Pax2tm1Pgr/Pax2+
involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ 		decreased renal glomerulus number J:117753
renal hypoplasia J:117753
Pax2tm1Pgr/Pax2tm1Pgr
involves: 129S1/Sv * 129X1/SvJ 		abnormal axon extension J:36834
abnormal brain morphology J:36834
abnormal diencephalon morphology J:36834
abnormal eye development J:36834
abnormal intermediate mesoderm morphology J:30343
abnormal kidney development J:30343
abnormal mesonephric mesenchyme morphology J:30343
abnormal mesonephros morphology J:30343
abnormal metanephric mesenchyme morphology J:30343
abnormal neural tube closure J:36834
abnormal optic fissure closure J:36834
abnormal optic nerve innervation J:36834
abnormal optic nerve morphology J:36834
abnormal optic stalk morphology J:36834
abnormal optic tract morphology J:36834
abnormal retina pigmentation J:36834
abnormal testis morphology J:30343
absent cochlea J:36834, J:92326
absent cochlear ganglion J:36834
absent cochlear nerve J:36834
absent efferent ductules of testis J:30343
absent epididymis J:30343
absent kidney J:30343
absent metanephros J:30343
absent optic chiasm J:36834
absent organ of Corti J:36834
absent oviduct J:30343
absent seminal vesicle J:30343
absent ureter J:30343
absent ureteric bud J:30343
absent uterine horn J:30343
absent vagina J:30343
absent vas deferens J:30343
coloboma J:36834
exencephaly J:36834
incomplete rostral neuropore closure J:36834
Mullerian duct degeneration J:30343
rudimentary Mullerian ducts J:30343
rudimentary Wolffian ducts J:30343
short scala media J:36834
Wolffian duct degeneration J:30343
Pax2tm1Pgr/Pax2tm1Pgr
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 		abnormal cochlea morphology J:92326
abnormal cochlear sensory epithelium morphology J:92326
abnormal common crus morphology J:92326
abnormal endolymphatic duct morphology J:92326
abnormal inner ear morphology J:92326
abnormal organ of Corti morphology J:92326
abnormal scala media morphology J:92326
abnormal semicircular canal ampulla morphology J:92326
abnormal semicircular canal morphology J:92326
abnormal stria vascularis morphology J:92326
abnormal vestibular saccular macula morphology J:92326
absent cochlear ganglion J:92326
absent vestibular saccule J:92326
decreased cochlea coiling J:92326
exencephaly J:92326
short endolymphatic duct J:92326
small endolymphatic duct J:92326
small vestibular ganglion J:92326
Pax2tm1Pgr/Pax2tm1Pgr
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J 		abnormal cochlea morphology J:119574
abnormal endolymphatic duct morphology J:119574
abnormal inner ear vestibule morphology J:119574
abnormal utricle morphology J:119574
abnormal vestibular saccule morphology J:119574
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
11/12/2024
MGI 6.24 		The Jackson Laboratory