Symbol
Name
ID

Pax3
paired box 3
MGI:97487

Phenotype annotations related to muscle

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

Human Phenotypes	Camptodactyly of finger	Scapular winging	Joint contracture of the hand	Spastic paraplegia	Alveolar rhabdomyosarcoma
Disease(s) Associated with PAX3	Camptodactyly of finger	Scapular winging	Joint contracture of the hand	Spastic paraplegia	Alveolar rhabdomyosarcoma
alveolar rhabdomyosarcoma
craniofacial-deafness-hand syndrome
Waardenburg syndrome type 3

Mouse Phenotypes

muscle phenotype

decreased ventricle muscle contractility

abnormal muscle precursor cell migration

abnormal muscle development

abnormal diaphragm development

abnormal myogenesis

abnormal hypoglossal cord morphology

abnormal myotome development

abnormal dermomyotome development

abnormal myotome morphology

abnormal skeletal muscle morphology

thin diaphragm muscle

abnormal intercostal muscle morphology

absent hypaxial muscle

hypaxial muscle hypoplasia

Availability

Mouse Genotype

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

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^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)

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

Pax3^{tm2.1(PAX3/FOXO1A)Buck}/Pax3⁺ (conditional)

Pax3^{tm2.1(PAX3/FOXO1A)Buck}/Pax3^Sp (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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