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Phenotypes Associated with This Genotype
Genotype
MGI:3623769
Allelic
Composition
Tbx5tm1.1Jse/Tbx5+
Genetic
Background
involves: 129/Sv * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbx5tm1.1Jse mutation (0 available); any Tbx5 mutation (28 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 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
• 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
• both atria are dilated
• variety of cardiac malformations seen, including a membranous and a muscular ventricular septal defect
• ventricles have a bulbous appearance
• thoracic cavities of some E16.5 embryos contain pleural and pericardial effusions
• instances of second degree atrioventricular block (failed propagation of an atrial impulse to the ventricles) are seen in 3 of 6 mice
• indicates a delay in the time required for atrial impulses to reach the ventricles (first degree atrioventricular block)
• long sinoatrial pauses (transient failure of atrial impulse generation) in all mice
• P wave is broader, however QRS complexes and T waves are not different from wild-type

limbs/digits/tail
• hypoplastic falciformis bones in the wrist
• phalangeal segments of the first forelimb digit are elongated

skeleton
• hypoplastic falciformis bones in the wrist
• phalangeal segments of the first forelimb digit are elongated

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

growth/size/body

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


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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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory