Phenotypes Associated with This Genotype

Genotype
MGI:3586914

• Allelic Composition: Tbx1^tm1Pa/Tbx1⁺
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ

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

cardiovascular system

abnormal fourth pharyngeal arch artery morphology ( J:70730 )

• Background Sensitivity: the incidence of this phenotype is increased on an inbred 129 background compared to mixed 129 and C57BL/6 or 129 and Swiss Webster backgrounds

• at E11.5, the fourth aortic arch arteries are either absent or reduced in thickness in 45% of heterozygotes compared to 7% of wild-type embryos

craniofacial

abnormal fourth pharyngeal arch artery morphology ( J:70730 )

• Background Sensitivity: the incidence of this phenotype is increased on an inbred 129 background compared to mixed 129 and C57BL/6 or 129 and Swiss Webster backgrounds

• at E11.5, the fourth aortic arch arteries are either absent or reduced in thickness in 45% of heterozygotes compared to 7% of wild-type embryos

embryo

abnormal fourth pharyngeal arch artery morphology ( J:70730 )

• Background Sensitivity: the incidence of this phenotype is increased on an inbred 129 background compared to mixed 129 and C57BL/6 or 129 and Swiss Webster backgrounds

• at E11.5, the fourth aortic arch arteries are either absent or reduced in thickness in 45% of heterozygotes compared to 7% of wild-type embryos

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
DiGeorge syndrome		DOID:11198	OMIM:188400	J:70730