Phenotypes Associated with This Genotype

Genotype
MGI:3587030

• Allelic Composition: Tbx1^tm1Bem/Tbx1⁺
• Genetic Background: FVB.Cg-Tbx1^tm1Bem

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

cardiovascular system

abnormal cardiac outflow tract development ( J:91664 )

• 3 of 29 had outflow tract and pharyngeal arch artery abnormalities including 1 with teratology of fallot with pulmonary atresia, 1 with double outlet right ventricle, and 1 with a retroesophageal right subclavian artery

hearing/vestibular/ear

abnormal middle ear morphology ( J:91664 )

• 10 of 20 had middle ear abnormalities apparent upon dissection including chronic otitis media, infiltration of inflammatory cells, thickening of the middle ear submucosa, thickening of the bony wall of the bulla, middle ear fluid accumulation, hyperplasia of ciliated cells and associated hearing loss

increased or absent threshold for auditory brainstem response ( J:91664 )

• the average ABR threshold was 46 dB compared to 29 dB in wild-type mice

increased susceptibility to otitis media ( J:91664 )

immune system

increased susceptibility to otitis media ( J:91664 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
DiGeorge syndrome		DOID:11198	OMIM:188400	J:91664
otitis media		DOID:10754		J:91664
velocardiofacial syndrome		DOID:12583	OMIM:192430	J:91664