Phenotypes Associated with This Genotype

Genotype
MGI:3046796

• Allelic Composition: Tbx1^tm2Bld/Tbx1^tm2Bld
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

cardiovascular system

abnormal heart development ( J:91013 )

• alignment of the outflow tract is abnormal in 8 out of 14 embryos at E18.5

ventricular septal defect ( J:91013 )

• a subvalvular ventricular septal defect is seen

craniofacial

abnormal pharyngeal arch morphology ( J:91013 )

• the pharyngeal phenotype is essentially identical to Tbx1^tm1Bld homozygotes

embryo

abnormal pharyngeal arch morphology ( J:91013 )

• the pharyngeal phenotype is essentially identical to Tbx1^tm1Bld homozygotes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
DiGeorge syndrome		DOID:11198	OMIM:188400	J:91013