Phenotypes Associated with This Genotype

Genotype
MGI:3610986

• Allelic Composition: Tbx1^tm1Bld/Tbx1⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

mortality/aging

postnatal lethality ( J:110620 )

• at weaning there is 4.1% loss of homozygotes compared to expected numbers

cardiovascular system

abnormal fourth pharyngeal arch artery morphology ( J:67409 )

• at E10.5, all heterozygotes exhibit at least one abnormal fourth pharyngeal arch artery (PAA), that is typically scored as abnormally small or absent

fourth pharyngeal arch artery hypoplasia ( J:110378 )

• hypoplastic at E10.5

abnormal aortic arch morphology ( J:188772 )

retroesophageal right subclavian artery ( J:188772 )

craniofacial

abnormal fourth pharyngeal arch artery morphology ( J:67409 )

• at E10.5, all heterozygotes exhibit at least one abnormal fourth pharyngeal arch artery (PAA), that is typically scored as abnormally small or absent

fourth pharyngeal arch artery hypoplasia ( J:110378 )

• hypoplastic at E10.5

abnormal palate morphology ( J:188772 )

embryo

abnormal fourth pharyngeal arch artery morphology ( J:67409 )

• at E10.5, all heterozygotes exhibit at least one abnormal fourth pharyngeal arch artery (PAA), that is typically scored as abnormally small or absent

fourth pharyngeal arch artery hypoplasia ( J:110378 )

• hypoplastic at E10.5

digestive/alimentary system

abnormal palate morphology ( J:188772 )

growth/size/body

abnormal palate morphology ( J:188772 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
DiGeorge syndrome		DOID:11198	OMIM:188400	J:67409