All Phenotypes Pdlim3<tm1Krc> MGI Mouse

prenatal lethality, incomplete penetrance ( J:69097 )

• at birth, the number of homozygotes is ~15% lower than the expected Mendelian frequency; however, the embryonic stage at which lethality occurs is not specified

• Background Sensitivity: embryonic lethality is most severe in the inbred 129S background and less severe in the C57BL/6 and Black Swiss genetic backgrounds

trabecula carnea hypoplasia ( J:69097 )

• at E11.5-E12.5, a subset (32%) of homozygotes that do not show marked RV dilatation exhibit disorganized and abnormally formed trabeculae predominantly in the RV

• no abnormalities in endocardial cushions, valves or aorta are observed

abnormal heart position or orientation ( J:69097 )

• at 6 months, homozygotes exhibit a relative change in the cardiac axis, resulting in displacement of the atria to the left; the mutant RV is found in a more anterior and ventral position

thin interventricular septum ( J:69097 )

• at E11.5-E12.5, a subset (32%) of homozygotes that do not show marked RV dilatation display variable thinning of the LV septum

dilated heart left ventricle ( J:69097 )

• adult homozygotes display only a mild LV chamber dilatation

abnormal heart right ventricle morphology ( J:69097 )

• Background Sensitivity: RV chamber dysmorphogenesis and dilation is most severe in the inbred 129S background and less severe in the C57BL/6 and Black Swiss genetic backgrounds

abnormal heart right ventricle outflow tract morphology ( J:69097 )

• at E11.5-E12.5, homozygotes show significant RV outflow-tract dilatation relative to wild-type embryos

• by 6 months, the mutant RV outflow tract is found in a more anterior and ventral position

decreased heart right ventricle wall thickness ( J:69097 )

• at E11.5-E12.5, homozygotes display thinning of the RV wall

dilated heart right ventricle ( J:69097 )

• at E11.5-E12.5, homozygotes show significant RV dilatation relative to wild-type embryos

• adult homozygotes exhibit RV dilatation that is most prominent at the base and outflow tract, with a notable shift in the axis of the RV relative to the LV

• no evidence of florid heart failure, hepatic congestion, peripheral edema or skeletal muscle dysfunction is observed in mutant newborn or adult mice

cardiac fibrosis ( J:69097 )

• at >6 months, 5 of 16 homozygotes exhibit myocardial fibrosis and myofibrillary disarray in the RV and to a lesser degree in the LV subendocardium

dilated cardiomyopathy ( J:69097 )

• at E11.5-E12.5, homozygotes display an embryonic form of dilated RV cardiomyopathy

• by 6 months, adult homozygotes exhibit dilated cardiomyopathy predominantly in the RV and RV outflow tract; only a mild LV cardiomyopathy is observed

decreased cardiac output ( J:69097 )

• homozygotes exhibit a mild RV dysfunction

decreased heart right ventricle muscle contractility ( J:69097 )

• homozygotes exhibit a mild RV dysfunction, as shown by a 10% reduction in the ejection fraction

edema ( J:69097 )

• homozygous mutant embryos appear edematous with evidence of heart failure and cardiac chamber dilatation (7/62)