Symbol
Name
ID

Pax3
paired box 3
MGI:97487

Phenotype annotations related to cardiovascular system

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes	Abnormal cardiovascular system morphology	Atrial septal defect	Abnormality of the pulmonary artery
Disease(s) Associated with PAX3	Abnormal cardiovascular system morphology	Atrial septal defect	Abnormality of the pulmonary artery
Waardenburg syndrome
Waardenburg syndrome type 1
Waardenburg syndrome type 3

Mouse Phenotypes

cardiovascular system phenotype

persistent right dorsal aorta

abnormal pharyngeal arch artery morphology

abnormal sixth pharyngeal arch artery morphology

retroesophageal right subclavian artery

abnormal common carotid artery morphology

abnormal cardiac outflow tract development

common truncal valve

persistent truncus arteriosus

double outlet right ventricle

ventricular septal defect

dilated heart left ventricle

dilated heart right ventricle

decreased ventricle muscle contractility

abnormal myocardial fiber physiology

Availability

Mouse Genotype

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

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

Pax3^tm2Joe/Pax3^tm2Joe

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