Phenotypes Associated with This Genotype

Genotype
MGI:5529922

hm1

• Allelic Composition: Tfap2a^tm1Hsv/Tfap2a^tm1Hsv
• Genetic Background: involves: 129S1/Sv * Black Swiss

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

cardiovascular system

abnormal aortic arch development ( J:73813 )

persistent right dorsal aorta ( J:73813 )

• double outlet right ventricle associated with a right dorsal aorta defect in 1 of 10 E14.5-15.5 embryos

retroesophageal right subclavian artery ( J:73813 )

• retroesophageal right subclavian artery (RERSCA) is observed in 1 of 10 E14.5-15.5 embryos

double outlet right ventricle ( J:73813 )

• 8 out of 10 E14.5-15.5 embryos exhibit double outlet right ventricle (DORV)

• the remaining two E14.5-E15.5 embryos exhibit a more extreme a DORV described as tetralogy of Fallot

ventricular septal defect ( J:73813 )

• observed in all embryos studied

abnormal heart ventricle outflow tract morphology ( J:73813 )

pulmonary valve atresia ( J:73813 )

• complete atresia of the proximal pulmonary outflow tract is found in 1 of 10 E15.5 embryos

pulmonary valve stenosis ( J:73813 )

• extreme stenosis of the proximal pulmonary outflow tract is found in 1 of 10 E14.5 embryos

craniofacial

abnormal craniofacial development ( J:73813 )

• highly disorganized craniofacial structures observed in E15.5 embryos

embryo

open neural tube ( J:73813 )

• failure of neural tube closure by E9.5

growth/size/body

abnormal ventral body wall morphology ( J:73813 )

• failure of ventral body wall closure observed in E15.5 embryos

nervous system

open neural tube ( J:73813 )

• failure of neural tube closure by E9.5