Phenotypes Associated with This Genotype

Genotype
MGI:7314277

• Allelic Composition: Prdm16^tm1.1Brsp/Prdm16^tm1.1Brsp; Tg(myl7.L-cre)1118Tmhn/0
• Genetic Background: involves: 129 * C57BL/6J * MF1

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

mortality/aging

postnatal lethality, complete penetrance ( J:326525 )

• mice exhibit progressive cardiac dysfunction leading to death before P7

cardiovascular system

thin left ventricle myocardium compact layer ( J:326525 )

• thinner left ventricle compact myocardium starting from E15.5

• however, thickness of right ventricle compact myocardium is normal

abnormal heart development ( J:326525 )

• mice develop biventricular noncompaction

abnormal heart apex morphology ( J:326525 )

• mice exhibit clefts at the apices of the hearts as early as E15.5

thin interventricular septum ( J:326525 )

• thinner interventricular septum starting from E15.5

• however, thickness of right ventricle compact myocardium is not different

increased heart left ventricle size ( J:326525 )

• enlarged left ventricle is seen as early as E15.5

dilated heart left ventricle ( J:326525 )

abnormal cardiovascular system physiology ( J:326525 )

• mice exhibit progressive cardiac dysfunction

decreased cardiac muscle contractility ( J:326525 )

• severe cardiac contractile dysfunction in P0 to P3 neonates

decreased fetal cardiomyocyte proliferation ( J:326525 )

• reduction in proliferating cardiomyocytes in left ventricle compact myocardium and interventricular septum at both E13.5 and E15.5

• however, no differences in cardiomyocyte apoptosis are seen

abnormal heart echocardiography feature ( J:326525 )

• echocardiography shows severe cardiac contractile dysfunction in P0 to P3 neonates, increased left ventricle chamber size, and thinned interventricular septum

cardiomyopathy ( J:326525 )

• left ventricular noncompaction cardiomyopathy

muscle

thin left ventricle myocardium compact layer ( J:326525 )

• thinner left ventricle compact myocardium starting from E15.5

• however, thickness of right ventricle compact myocardium is normal

decreased cardiac muscle contractility ( J:326525 )

• severe cardiac contractile dysfunction in P0 to P3 neonates

decreased fetal cardiomyocyte proliferation ( J:326525 )

• reduction in proliferating cardiomyocytes in left ventricle compact myocardium and interventricular septum at both E13.5 and E15.5

• however, no differences in cardiomyocyte apoptosis are seen

cardiomyopathy ( J:326525 )

• left ventricular noncompaction cardiomyopathy

cellular

decreased fetal cardiomyocyte proliferation ( J:326525 )

• reduction in proliferating cardiomyocytes in left ventricle compact myocardium and interventricular septum at both E13.5 and E15.5

• however, no differences in cardiomyocyte apoptosis are seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
left ventricular noncompaction		DOID:0060480	OMIM:604169	J:326525