Phenotypes Associated with This Genotype

Genotype
MGI:6393314

• Allelic Composition: Tfap2b^em1Fenli/Tfap2b^em1Fenli
• Genetic Background: involves: C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:278067 )

• most newborns die within 3 hours after birth and all die before P1

cardiovascular system

kidney vascular congestion ( J:278067 )

• slight kidney congestion

abnormal fetal ductus arteriosus morphology ( J:278067 )

• the number of ductal smooth muscle cells is decreased in the ductus arteriosus

patent ductus arteriosus ( J:278067 )

• mice show partially delayed closure of the ductus arteriosus

• mice exhibit patent ductus arteriosus (PDA); all mice present with wide PDA at 2 hours after birth and about 42% of pups that survive longer than 6 hours and less than 24 hours show a shunt in the ductus arteriosus

abnormal vascular smooth muscle physiology ( J:278067 )

• marker analysis indicates that mice exhibit alterations in functional contraction of ductal smooth muscle cells

muscle

abnormal vascular smooth muscle physiology ( J:278067 )

• marker analysis indicates that mice exhibit alterations in functional contraction of ductal smooth muscle cells

renal/urinary system

abnormal kidney morphology ( J:278067 )

• kidneys appear slightly hyperemic and edematous at birth

kidney vascular congestion ( J:278067 )

• slight kidney congestion

kidney cyst ( J:278067 )

• some small cysts in kidneys

dilated renal tubule ( J:278067 )

• tubular dilation is seen in the area of distal tubuli and collecting duct system

cellular

patent ductus arteriosus ( J:278067 )

• mice show partially delayed closure of the ductus arteriosus

• mice exhibit patent ductus arteriosus (PDA); all mice present with wide PDA at 2 hours after birth and about 42% of pups that survive longer than 6 hours and less than 24 hours show a shunt in the ductus arteriosus

craniofacial

craniofacial phenotype ( J:278067 )

N • mice exhibit no palatal anomalies

limbs/digits/tail

limbs/digits/tail phenotype ( J:278067 )

N • mice exhibit normal digits

growth/size/body

kidney cyst ( J:278067 )

• some small cysts in kidneys

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
patent ductus arteriosus		DOID:13832	OMIM:607411	J:278067