Phenotypes associated with this allele

• Allele Symbol: Tbx5^tm1.2Jse
• Allele Name: targeted mutation 1.2, Jonathan G Seidman
• Allele ID: MGI:3692758
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tbx5^tm1.2Jse/Tbx5^tm1.2Jse	involves: 129S/SvEv * 129X1/SvJ	MGI:3692769
cn2	Tbx5^tm1.2Jse/Tbx5^tm1.2Jse	Not Specified	MGI:5474055
cn3	Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor^+ Tbx5^tm1.2Jse/Tbx5^tm1.2Jse Tg(Kcne1-cre/ERT2)1Imos/0	involves: 129S4/SvJaeSor * CD-1	MGI:5474054
cn4	Tbx5^tm1.2Jse/Tbx5^tm1.2Jse Tg(Kcne1-cre/ERT2)1Imos/0	involves: CD-1	MGI:5474053

Genotype
MGI:3692769

hm1

• Allelic Composition: Tbx5^tm1.2Jse/Tbx5^tm1.2Jse
• Genetic Background: involves: 129S/SvEv * 129X1/SvJ

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

normal phenotype

no abnormal phenotype detected ( J:112887 )

• viable and live for more than one year and exhibit no atrial septal defects or cardiac dilatation

Genotype
MGI:5474055

cn2

• Allelic Composition: Tbx5^tm1.2Jse/Tbx5^tm1.2Jse
• Genetic Background: Not Specified

cardiovascular system

ventricular tachycardia ( J:190765 )

• only nonsustained episodes of polymorphic ventricular tachycardia occur after programmed stimulation in electrophysiological studies in contrast to those seen in conditionally deleted mutants

ventricular premature beat ( J:190765 )

• premature ventricular contractions (PVCs) per 24 hour period are detected

atrioventricular block ( J:190765 )

• second-degree AV block is observed occasionally

Genotype
MGI:5474054

cn3

• Allelic Composition: Gt(ROSA)26Sor^tm1Sor/Gt(ROSA)26Sor⁺; Tbx5^tm1.2Jse/Tbx5^tm1.2Jse; Tg(Kcne1-cre/ERT2)1Imos/0
• Genetic Background: involves: 129S4/SvJaeSor * CD-1

cardiovascular system

cardiovascular system phenotype ( J:190765 )

N • tamoxifen-treated mutants have ventricular conduction system (VCS) cellular fate maps indistinguishable from Tbx5-sufficient animals indicating that defects in conditional animals do not result from loss of VCS cells

Genotype
MGI:5474053

cn4

• Allelic Composition: Tbx5^tm1.2Jse/Tbx5^tm1.2Jse; Tg(Kcne1-cre/ERT2)1Imos/0
• Genetic Background: involves: CD-1

mortality/aging

abnormal induced morbidity/mortality ( J:190765 )

• sudden death occurring within 5 weeks of tamoxifen administration (at 6 weeks) is observed

• one mouse that developed spontaneous ventricular tachycardia died suddenly prior to any electrophysiological testing

premature death ( J:190765 )

• following tamoxifen treatment starting at 6 weeks, animals demonstrate sudden death as soon as 5 weeks post administration

cardiovascular system

cardiovascular system phenotype ( J:190765 )

N • mutants have similar contractile function to controls; mice display immediate recovery of normal cardiac function after episodes of spontaneous ventricular tachycardia

ventricular tachycardia ( J:190765 )

• displayed by some tamoxifen-treated mutants; in ambulatory studies and electrophysiologic (EP) studies, spontaneous monomorphic ventricular tachycardia episodes are observed in some mice

• mice show significantly increased susceptibility to ventricular tachycardia after burst stimulation in EP studies

irregular heartbeat ( J:190765 )

• significant arrhythmias are observed in tamoxifen-treated mutants, including Mobitz type II second-degree AV block (indicating infranodal conduction system disease)

ventricular premature beat ( J:190765 )

• premature ventricular contractions (PVCs) numbering more than 100 per 24 hour period are detected in more than half of mutant mice

abnormal impulse conducting system conduction ( J:190765 )

• severe conduction slowing is observed in tamoxifen-treated animals 4-5 weeks after tamoxifen administration; the PR interval and QRS duration are significantly increased compared to controls

abnormal atrioventricular bundle conduction ( J:190765 )

• slowed conductance through the His bundle is detected; non-ventricular conduction system (VCS) function is not altered

atrioventricular block ( J:190765 )