Phenotypes Associated with This Genotype

Genotype
MGI:3587028

• Allelic Composition: Tbx1^tm1Bem/Tbx1⁺
• Genetic Background: involves: 129/Sv * C57BL/6J * SJL

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

cardiovascular system

aberrant origin of the right subclavian artery ( J:67796 )

• 2 of 14 have an abnormal origin of the right subclavian artery, an additional 3 of 14 have a retroesophageal right subclavian artery (1 of these also has an interupted aortic arch), and 1 of 14 have a right subclavian artery that arises from the pulmonary artery

retroesophageal right subclavian artery ( J:67796 )

• 3 of 14 have a retroesophageal right subclavian artery

cervical aortic arch ( J:67796 )

• 1 of 14 heterozyotes has an abnormally high aortic arch

interrupted aortic arch ( J:67796 )

• 1 of 14 has an interrupted aortic arch

craniofacial

abnormal fourth pharyngeal arch morphology ( J:167713 )

• hypotrophic at E10.5

small pharyngeal arch ( J:167713 )

• hypotrophic fourth arch at E10.5

embryo

abnormal fourth pharyngeal arch morphology ( J:167713 )

• hypotrophic at E10.5

small pharyngeal arch ( J:167713 )

• hypotrophic fourth arch at E10.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
DiGeorge syndrome		DOID:11198	OMIM:188400	J:67796
velocardiofacial syndrome		DOID:12583	OMIM:192430	J:67796