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Symbol
Name
ID
Pax3
paired box 3
MGI:97487
Phenotype annotations related to hearing/vestibular/ear
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Conductive hearing impairment
Sensorineural hearing impairment
Congenital sensorineural hearing impairment
Hearing impairment
Disease(s) Associated with PAX3
craniofacial-deafness-hand syndrome
Waardenburg syndrome
Waardenburg syndrome type 1
Waardenburg syndrome type 3

Mouse Phenotypes
hearing/vestibular/ear phenotype
abnormal bony labyrinth
abnormal otic vesicle development
decreased cochlea coiling
abnormal semicircular canal morphology
abnormal utricle morphology
abnormal vestibular saccule morphology
abnormal endolymphatic duct morphology
short endolymphatic duct
decreased tympanic ring size
Availability Mouse Genotype
Pax3Sp/Pax3Sp
Pax3Sp/Pax3+ *
Gt(ROSA)26Sortm2(Pax3)Joe/Gt(ROSA)26Sortm2(Pax3)Joe
Pax3tm1(cre)Joe/Pax3+  (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