Phenotypes Associated with This Genotype

Genotype
MGI:2667200

• Allelic Composition: Cited2^tm1Ycy/Cited2^tm1Ycy
• Genetic Background: involves: C57BL/6J

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

Histological analysis of Cited2^tm1Ycy/Cited2^tm1Ycy embryonic heart

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:78364 )

• 95% died between E13 and E17.5; none survived beyond E18.5

cardiovascular system

pulmonary artery stenosis ( J:78364 )

• narrowing of pulmonary artery

abnormal heart and great artery attachment ( J:78364 )

• misalignment of aorta and pulmonary artery with respect to each other and ventricular chambers

persistent truncus arteriosus ( J:78364 )

• observed in several embryos

double outlet right ventricle ( J:78364 )

• exhibited by some embryos at E13.5 and E16.5

ventricular septal defect ( J:78364 )

• apparent E13.5-E16.5

• leakage between ventricles

abnormal blood flow velocity ( J:78364 )

• high peak outflow velocities

atrioventricular valve regurgitation ( J:78364 )

• leakage from ventricles into atria in some embryos

embryo

decreased embryo size ( J:78364 )

• smaller than wild-type at E12.5

growth/size/body

decreased embryo size ( J:78364 )

• smaller than wild-type at E12.5

vision/eye

iris coloboma ( J:78364 )

• iris coloboma exhibited by E12.5

nervous system

exencephaly ( J:78364 )

• 69% of embryos displayed open cranial neural tubes at E13.5

abnormal spinal cord central canal morphology ( J:78364 )

• premature closure of the central canal in 11 of 13 embryos

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tetralogy of Fallot		DOID:6419	OMIM:187500	J:78364