Phenotypes Associated with This Genotype

Genotype
MGI:3692774

• Allelic Composition: Tbx5^tm1Jse/Tbx5⁺
• Genetic Background: involves: 129S/SvEv

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:112887 )

• about 27% die prior to weaning

cardiovascular system

atrial septal defect ( J:112887 )

• all mice exhibit atrial septal defects; atrial septal defects are smaller than in Tbx5^tm1.1Jse heterozygotes

• however, mice do not have ventricular septal defects

dilated heart atrium ( J:112887 )

• all show an enlargement of the atria

abnormal cardiovascular system physiology ( J:112887 )

• cardiac monitoring over 48 hours shows sporadic electrophysiological anomalies, including occurrences of ventricular tachycardia, sinus rhythm with atrial complexes, secondary degree AV block and sinoatrial pauses

abnormal sinus arrhythmia ( J:112887 )

• occurrences of sinus rhythm anomalies with atrial complexes

ventricular tachycardia ( J:112887 )

• occurrences of ventricular tachycardia

prolonged PQ interval ( J:112887 )

• increase in PQ-interval duration at 12 weeks of age, indicative of first degree atrioventricular block; block is less severe than that seen in Tbx5^tm1.1Jse heterozygotes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Holt-Oram syndrome		DOID:0060468	OMIM:142900	J:112887