Phenotypes Associated with This Genotype

Genotype
MGI:3037863

• Allelic Composition: Fgf8^tm1.3Mrt/Fgf8^tm1.4Mrt; Tg(Tbx1-cre)1Joe/0
• Genetic Background: involves: 129P2/OlaHsd

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:88814 )

• most mice die between E18.5 and P1

cardiovascular system

cardiovascular system phenotype ( J:88814 )

N • some defects observed as a result of Tbx1-deficiency, including those involving the aortic arch, were not observed

abnormal cardiovascular system morphology ( J:88814 )

• exhibit variable cardiovascular patterning defects listed below

aortic dissection ( J:88814 )

abnormal internal carotid artery morphology ( J:88814 )

• duplication of the internal carotid arteries

abnormal vascular smooth muscle morphology ( J:88814 )

• impaired differentiation in the great vessels

• muscular wall is of variable thickness and lacks the striated structural appearance of normal arterial smooth muscle

persistent truncus arteriosus ( J:88814 )

abnormal heart development ( J:88814 )

• Tetrology of Fallot

double outlet right ventricle ( J:88814 )

transposition of great arteries ( J:88814 )

atrial septal defect ( J:88814 )

• atrial septal defects

perimembraneous ventricular septal defect ( J:88814 )

• ventricular septal defects

immune system

abnormal thymus morphology ( J:88814 )

• some exhibit a single lobed thymus

small thymus ( J:88814 )

muscle

abnormal vascular smooth muscle morphology ( J:88814 )

• impaired differentiation in the great vessels

• muscular wall is of variable thickness and lacks the striated structural appearance of normal arterial smooth muscle

hematopoietic system

abnormal thymus morphology ( J:88814 )

• some exhibit a single lobed thymus

small thymus ( J:88814 )

endocrine/exocrine glands

abnormal thymus morphology ( J:88814 )

• some exhibit a single lobed thymus

small thymus ( J:88814 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
DiGeorge syndrome		DOID:11198	OMIM:188400	J:88814