Phenotypes Associated with This Genotype

Genotype
MGI:3587029

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

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

cardiovascular system

right aortic arch ( J:91664 )

• 2 of 15 had a right sided aortic arch

persistent truncus arteriosus ( J:91664 )

• 15 of 15 had persistent truncus arteriosis

craniofacial

palatal shelves fail to meet at midline ( J:91664 )

absent masseter muscle ( J:91664 )

absent pterygoid muscle ( J:91664 )

cleft palate ( J:91664 )

• 15 of 15 had an overt cleft palate

anotia ( J:91664 )

immune system

thymus hypoplasia ( J:91664 )

• a single lobe thyroid gland was present

athymia ( J:91664 )

• 15 of 15 had athymia

hematopoietic system

thymus hypoplasia ( J:91664 )

• a single lobe thyroid gland was present

athymia ( J:91664 )

• 15 of 15 had athymia

digestive/alimentary system

palatal shelves fail to meet at midline ( J:91664 )

cleft palate ( J:91664 )

• 15 of 15 had an overt cleft palate

endocrine/exocrine glands

absent ultimobranchial body ( J:91664 )

absent parathyroid glands ( J:91664 )

thymus hypoplasia ( J:91664 )

• a single lobe thyroid gland was present

athymia ( J:91664 )

• 15 of 15 had athymia

embryo

absent ultimobranchial body ( J:91664 )

muscle

absent masseter muscle ( J:91664 )

absent pterygoid muscle ( J:91664 )

hearing/vestibular/ear

anotia ( J:91664 )

abnormal inner ear morphology ( J:91664 )

• lack of defined inner ear structures

abnormal middle ear morphology ( J:91664 )

• missing middle ear structures

growth/size/body

palatal shelves fail to meet at midline ( J:91664 )

absent masseter muscle ( J:91664 )

absent pterygoid muscle ( J:91664 )

cleft palate ( J:91664 )

• 15 of 15 had an overt cleft palate

anotia ( J:91664 )

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