Symbol
Name
ID

Pax3
paired box 3
MGI:97487

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	Microcephaly	Aganglionic megacolon	Spastic paraplegia	Meningocele	Myelomeningocele	Spina bifida	Intellectual disability
Disease(s) Associated with PAX3	Microcephaly	Aganglionic megacolon	Spastic paraplegia	Meningocele	Myelomeningocele	Spina bifida	Intellectual disability
Waardenburg syndrome
Waardenburg syndrome type 1
Waardenburg syndrome type 3

Mouse Phenotypes

nervous system phenotype

increased embryonic neuroepithelium apoptosis

abnormal neural tube morphology

delayed neural tube closure

incomplete rostral neuropore closure

open neural tube

spina bifida

spina bifida cystica

caudal rachischisis

small embryonic telencephalon

abnormal midbrain development

abnormal brain ventricle morphology

abnormal lateral ventricle morphology

abnormal hindbrain morphology

exencephaly

abnormal dorsal root ganglion morphology

absent dorsal root ganglion

disorganized dorsal root ganglion

abnormal spinal cord morphology

Availability

Mouse Genotype

Pax3^Rwa/Pax3^Rwa

Pax3^Sp-1H/Pax3^Sp-1H

Pax3^Sp-1Wli/Pax3^Sp-1Wli

Pax3^Sp-1Xzg/Pax3^Sp-1Xzg

Pax3^Sp-2H/Pax3^Sp-2H

Pax3^Sp-5H/Pax3^Sp-5H

Pax3^Sp-7H/Pax3^Sp-7H

Pax3^Sp-d/Pax3^Sp-d

Pax3^Sp/Pax3^Sp

Pax3^tm1(cre)Joe/Pax3^tm1(cre)Joe

Pax3^tm1Buck/Pax3^tm1Buck

Pax3^tm2Joe/Pax3^tm2Joe

Pax3^{tm3(Pax7)Buck}/Pax3^{tm3(Pax7)Buck}

Pax3^tm6.2Buck/Pax3^tm6.2Buck

Pax3^Rwa/Pax3⁺

Pax3^Sp/Pax3⁺

Pax3^tm1Buck/Pax3^Sp

Gt(ROSA)26Sor^tm2(Pax3)Joe/Gt(ROSA)26Sor^tm2(Pax3)Joe
Pax3^tm1(cre)Joe/Pax3⁺ (conditional)

Pax3^tm2Joe/Pax3^tm2Joe
H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺ (conditional)

Pax3^tm5.1Buck/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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