Phenotypes Associated with This Genotype

Genotype
MGI:3688533

• Allelic Composition: Flna^Dilp2/Y
• Genetic Background: involves: BALB/cAnN * C3H/HeN * C57BL/6

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:112274 )

♂ • die by E15.5

cardiovascular system

abnormal cardiac outflow tract development ( J:112274 )

♂ • outflow tract seems to be more centrally located and fails to separate

persistent truncus arteriosus ( J:112274 )

♂ • exhibit a common arterial trunk in which there is no separate aorta and pulmonary artery, but a single vessel that emerges from the right ventricle

double outlet right ventricle ( J:112274 )

♂

thick mitral valve ( J:112274 )

♂ • exhibit thickening of the mitral valve (dysplasia)

ostium primum atrial septal defect ( J:112274 )

♂ • exhibit atrial septal defect primum

ventricular septal defect ( J:112274 )

♂ • exhibit ventricular septal defects

decreased heart right ventricle size ( J:112274 )

♂

craniofacial

cleft secondary palate ( J:112274 )

♂

failure of palatal shelf elevation ( J:112274 )

♂ • palatal shelves fail to elevate at E15.5

homeostasis/metabolism

edema ( J:112274 )

♂

skeleton

abnormal sternum morphology ( J:112274 )

♂ • exhibit incomplete fusion of the sternum at E15.5

digestive/alimentary system

cleft secondary palate ( J:112274 )

♂

failure of palatal shelf elevation ( J:112274 )

♂ • palatal shelves fail to elevate at E15.5

growth/size/body

cleft secondary palate ( J:112274 )

♂

failure of palatal shelf elevation ( J:112274 )

♂ • palatal shelves fail to elevate at E15.5

omphalocele ( J:112274 )

♂ • exhibit umbilical hernia and show delayed resorption of the hernia

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
periventricular nodular heterotopia		DOID:0050454	OMIM:300049 OMIM:608097 OMIM:608098 OMIM:612881 OMIM:615544	J:112274