Phenotypes Associated with This Genotype

Genotype
MGI:3797650

• Allelic Composition: Myocd^tm1Msp/Myocd^tm1Msp; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129/Sv * C57BL/6 * CBA

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

mortality/aging

postnatal lethality, complete penetrance ( J:131288 )

• majority of mutants die before P3

cardiovascular system

abnormal angiogenesis ( J:131288 )

• the architecture of the neointima and tunica media of the ductus arteriosus is disturbed

• increase in fibronectin and laminin in the ductus arteriosus

patent ductus arteriosus ( J:131288 )

• all mutants at P2 exhibit patent ductus arteriosus

• E16.5 mutants exhibit diminished expression of smooth muscle cell contractile proteins in the ductus arteriosus

• however, patterning of the cardiac outflow tract and great arteries is normal

abnormal vascular smooth muscle morphology ( J:131288 )

• the smooth muscle cells of the ductus arteriosus are heterogeneous in size with a loss of spindle-like cell morphology

• the smooth muscle cells of the ductus arteriosus have relatively few myofibers and show an increase in synthetic organelles, including the rough ER and Golgi

homeostasis/metabolism

cyanosis ( J:131288 )

• pups become cyanotic shortly after birth

muscle

abnormal vascular smooth muscle morphology ( J:131288 )

• the smooth muscle cells of the ductus arteriosus are heterogeneous in size with a loss of spindle-like cell morphology

• the smooth muscle cells of the ductus arteriosus have relatively few myofibers and show an increase in synthetic organelles, including the rough ER and Golgi

cellular

patent ductus arteriosus ( J:131288 )

• all mutants at P2 exhibit patent ductus arteriosus

• E16.5 mutants exhibit diminished expression of smooth muscle cell contractile proteins in the ductus arteriosus

• however, patterning of the cardiac outflow tract and great arteries is normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
patent ductus arteriosus		DOID:13832	OMIM:607411	J:131288