Phenotypes Associated with This Genotype

Genotype
MGI:3623769

• Allelic Composition: Tbx5^tm1.1Jse/Tbx5⁺
• Genetic Background: involves: 129/Sv * Black Swiss

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:71845 )

• Background Sensitivity: on a 129/Sv background, only 10% of pups are alive and only 3 of those survive past weaning, however on a mixed 129/Sv and Black Swiss background, 40% die perinatally and those that survive 3 weeks live into adulthood

cardiovascular system

ostium primum atrial septal defect ( J:71845 )

• large atrial septal defects are seen in all adults and appear to arise from an absence or reduction of the anterior portion of the septum

• atrial septal defects are also seen in E16.5 embryos

dilated heart atrium ( J:71845 )

• both atria are dilated

ventricular septal defect ( J:71845 )

• variety of cardiac malformations seen, including a membranous and a muscular ventricular septal defect

perimembraneous ventricular septal defect ( J:71845 )

muscular ventricular septal defect ( J:71845 )

abnormal heart ventricle shape ( J:71845 )

• ventricles have a bulbous appearance

enlarged heart ( J:71845 )

pericardial effusion ( J:71845 )

• thoracic cavities of some E16.5 embryos contain pleural and pericardial effusions

abnormal impulse conducting system conduction ( J:71845 )

atrioventricular block ( J:71845 )

• instances of second degree atrioventricular block (failed propagation of an atrial impulse to the ventricles) are seen in 3 of 6 mice

prolonged PR interval ( J:71845 )

• indicates a delay in the time required for atrial impulses to reach the ventricles (first degree atrioventricular block)

sinoatrial block ( J:71845 )

• long sinoatrial pauses (transient failure of atrial impulse generation) in all mice

prolonged P wave ( J:71845 )

• P wave is broader, however QRS complexes and T waves are not different from wild-type

limbs/digits/tail

abnormal carpal bone morphology ( J:71845 )

• hypoplastic falciformis bones in the wrist

abnormal phalanx morphology ( J:71845 )

• phalangeal segments of the first forelimb digit are elongated

skeleton

abnormal carpal bone morphology ( J:71845 )

• hypoplastic falciformis bones in the wrist

abnormal phalanx morphology ( J:71845 )

• phalangeal segments of the first forelimb digit are elongated

homeostasis/metabolism

pericardial effusion ( J:71845 )

• thoracic cavities of some E16.5 embryos contain pleural and pericardial effusions

hydrops fetalis ( J:71845 )

• some E16.5 embryos are edematous with blood pooling in the extremities and the thoracic cavities contain pleural and pericardial effusions

growth/size/body

enlarged heart ( J:71845 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Holt-Oram syndrome		DOID:0060468	OMIM:142900	J:71845