Symbol
Name
ID

Nkx2-5
NK2 homeobox 5
MGI:97350

Phenotype annotations related to muscle

Darker colors indicate more annotations

Human Phenotypes	Macroglossia	Hypotonia
Disease(s) Associated with NKX2-5	Macroglossia	Hypotonia
congenital nongoitrous hypothyroidism 5

Mouse Phenotypes

abnormal impulse conducting system morphology

abnormal Purkinje fiber morphology

abnormal atrioventricular bundle morphology

abnormal left posterior bundle morphology

abnormal atrioventricular node morphology

absent atrioventricular node

atrioventricular node hypoplasia

abnormal myocardium layer morphology

abnormal myocardial fiber morphology

abnormal myocardial trabeculae morphology

abnormal trabecula carnea morphology

absent trabeculae carneae

absent myocardial trabeculae

disorganized myocardium

thin myocardium

dilated cardiomyopathy

decreased ventricle muscle contractility

cardiomyopathy

abnormal pyloric sphincter morphology

abnormal stomach smooth muscle circular layer morphology

abnormal stomach smooth muscle outer longitudinal layer morphology

abnormal myogenesis

Availability

Mouse Genotype

Nkx2-5^em1Dsr/Nkx2-5^em1Dsr

Nkx2-5^tm1.1Burg/Nkx2-5^tm1.1Burg

Nkx2-5^tm1Siz/Nkx2-5^tm1Siz

Nkx2-5^tm1Wehi/Nkx2-5^tm1Wehi

Nkx2-5^tm2Siz/Nkx2-5^tm2Siz

Nkx2-5^tm4Rph/Nkx2-5^tm4Rph

Nkx2-5^tm1.1Hkas/Nkx2-5⁺

Nkx2-5^tm1Siz/Nkx2-5⁺

Nkx2-5^tm2.1Mwc/Nkx2-5⁺

Nkx2-5^tm2Siz/Nkx2-5⁺

Nkx2-5^tm3.1Mwc/Nkx2-5⁺

Nkx2-5^tm4Rph/Nkx2-5⁺

Nkx2-5^tm1.1Gum/Nkx2-5^tm1.1Gum
Tg(CAG-cre/Esr1*)5Amc/0 (conditional)

Myl2^tm1(cre)Krc/Myl2⁺
Nkx2-5^tm1Krc/Nkx2-5^tm1Krc (conditional)

Nkx2-5^tm1Krc/Nkx2-5^tm1Krc
Isl1^tm1(cre)Tmj/Isl1⁺ (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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