Phenotypes associated with this allele

• Allele Symbol: Nkx2-5^tm2Siz
• Allele Name: targeted mutation 2, Seigo Izumo
• Allele ID: MGI:3040604
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nkx2-5^tm2Siz/Nkx2-5^tm2Siz	involves: 129S4/SvJaeSor	MGI:3041123
ht2	Nkx2-5^tm2Siz/Nkx2-5^+	involves: 129S4/SvJaeSor	MGI:3041124

Genotype
MGI:3041123

hm1

• Allelic Composition: Nkx2-5^tm2Siz/Nkx2-5^tm2Siz
• Genetic Background: involves: 129S4/SvJaeSor

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:89216 )

• death by E10 due to arrested cardiac development

cardiovascular system

abnormal cardiac outflow tract development ( J:89216 )

• stenotic outflow tract

abnormal heart development ( J:89216 )

• arrest of cardiac development at E9.5

abnormal fetal atrioventricular canal morphology ( J:89216 )

• wide AV canal

abnormal heart looping ( J:89216 )

• partial looping

abnormal heart atrium morphology ( J:89216 )

• bulbous atrium

absent atrioventricular node ( J:89216 )

• absence of the atrioventricular node primordium

abnormal heart ventricle shape ( J:89216 )

• bulbous ventricle

muscle

absent atrioventricular node ( J:89216 )

• absence of the atrioventricular node primordium

Genotype
MGI:3041124

ht2

• Allelic Composition: Nkx2-5^tm2Siz/Nkx2-5⁺
• Genetic Background: involves: 129S4/SvJaeSor

cardiovascular system

abnormal impulse conducting system morphology ( J:89216 )

• form a smaller central conduction system, with smaller atrioventricular node and His bundle

• the number of cells in the conduction system is reduced by approximately half

abnormal Purkinje fiber morphology ( J:89216 )

• hypocellularity of the peripheral Purkinje network

abnormal atrioventricular node morphology ( J:89216 )

• smaller atrioventricular node

abnormal heart development ( J:89216 )

heart block ( J:89216 )

• defects in in the atrioventricular node, His bundle, and intraventricular conduction

• exhibit similar conduction and electrophysiologic abnormalities as heterozygous Nkx2-5^tm1Siz mice

muscle

abnormal impulse conducting system morphology ( J:89216 )

• form a smaller central conduction system, with smaller atrioventricular node and His bundle

• the number of cells in the conduction system is reduced by approximately half

abnormal Purkinje fiber morphology ( J:89216 )

• hypocellularity of the peripheral Purkinje network

abnormal atrioventricular node morphology ( J:89216 )

• smaller atrioventricular node