Phenotypes Associated with This Genotype

Genotype
MGI:3622337

• Allelic Composition: Slc8a1^tm1Yin/Slc8a1⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

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

cardiovascular system

heart left ventricle hypertrophy ( J:75050 )

• heterozygotes exhibit no significant differences in cardiac morphology e.g. interventricular septal wall thickness, LV posterior wall thickness, LV end-diastolic dimension, or LV end-systolic dimension relative to wild-type mice

• however, at 3 wks after transverse aorta constriction (""pressure overload""), heterozygotes show a higher increase in left ventricular weight to body weight ratio and in LV wall thickness than wild-type mice

cardiac interstitial fibrosis ( J:75050 )

• at 3 wks after transverse aorta constriction (""pressure overload""), heterozygous hearts show significantly increased interstitial collagen accumulation relative to wild-type hearts

abnormal cardiovascular system physiology ( J:65985 )

• adult heterozygotes display a ~50% reduction of Na⁺-dependent Ca²⁺ exchange activity in aortic smooth muscles

increased heart left ventricle muscle contractility ( J:75050 )

• heterozygotes exhibit normal baseline cardiac functions with no significant differences in systolic left ventricular pressure (LVP), end-diastolic pressure (EDP), and positive and negative first derivatives of left ventricular pressure (dP/dt, -dP/dt) relative to wild-type mice

• however, at 3 wks after transverse aorta constriction ("pressure overload"), heterozygotes exhibit a higher increase in peak LVP and EDP as well a notable increase in dP/dt, indicating enhanced cardiac systolic function

• echocardiography indicates that ejection fraction is reduced by pressure overload in wild-type but not in heterozygous mutant mice

abnormal cardiac muscle relaxation ( J:75050 )

• at 3 wks after transverse aorta constriction (""pressure overload""), heterozygotes show a higher increase in minimal dP/dt than wild-type mice

• however, heterozygotes display a diastolic dip and plateau pattern of LVP, suggesting "restrictive" diastolic dysfunction; pseudonormalization of LV inflow pattern characterized by increased E wave and short deceleration time of early diastolic transmitral velocity is only observed in heterozygotes

increased left ventricle diastolic pressure ( J:75050 )

• heterozygotes exhibit no significant differences in LV end-diastolic pressure relative to wild-type mice

• however, at 3 wks after transverse aorta constriction (""pressure overload""), heterozygotes exhibit a higher increase in peak EDP relative to wild-type mice

increased left ventricle systolic pressure ( J:75050 )

• heterozygotes exhibit no significant differences in systolic LVP relative to wild-type mice

• however, at 3 wks after transverse aorta constriction (""pressure overload""), heterozygotes exhibit a higher increase in peak LVP relative to wild-type mice

muscle

heart left ventricle hypertrophy ( J:75050 )

• heterozygotes exhibit no significant differences in cardiac morphology e.g. interventricular septal wall thickness, LV posterior wall thickness, LV end-diastolic dimension, or LV end-systolic dimension relative to wild-type mice

• however, at 3 wks after transverse aorta constriction (""pressure overload""), heterozygotes show a higher increase in left ventricular weight to body weight ratio and in LV wall thickness than wild-type mice

increased heart left ventricle muscle contractility ( J:75050 )

• heterozygotes exhibit normal baseline cardiac functions with no significant differences in systolic left ventricular pressure (LVP), end-diastolic pressure (EDP), and positive and negative first derivatives of left ventricular pressure (dP/dt, -dP/dt) relative to wild-type mice

• however, at 3 wks after transverse aorta constriction ("pressure overload"), heterozygotes exhibit a higher increase in peak LVP and EDP as well a notable increase in dP/dt, indicating enhanced cardiac systolic function

• echocardiography indicates that ejection fraction is reduced by pressure overload in wild-type but not in heterozygous mutant mice

abnormal cardiac muscle relaxation ( J:75050 )

• at 3 wks after transverse aorta constriction (""pressure overload""), heterozygotes show a higher increase in minimal dP/dt than wild-type mice

• however, heterozygotes display a diastolic dip and plateau pattern of LVP, suggesting "restrictive" diastolic dysfunction; pseudonormalization of LV inflow pattern characterized by increased E wave and short deceleration time of early diastolic transmitral velocity is only observed in heterozygotes

impaired smooth muscle contractility ( J:65985 )

• upon Na⁺ removal, aortic rings from adult heterozygotes show a significant reduction in vascular tension (36% of high K⁺-induced tension) relative to wild-type rings (94% of high K⁺-induced tension); unlike wild-type, smooth muscle relaxation of heterozygous aortic rings is extracellular Na⁺-independent

growth/size/body

heart left ventricle hypertrophy ( J:75050 )

• heterozygotes exhibit no significant differences in cardiac morphology e.g. interventricular septal wall thickness, LV posterior wall thickness, LV end-diastolic dimension, or LV end-systolic dimension relative to wild-type mice

• however, at 3 wks after transverse aorta constriction (""pressure overload""), heterozygotes show a higher increase in left ventricular weight to body weight ratio and in LV wall thickness than wild-type mice

cellular

cardiac interstitial fibrosis ( J:75050 )

• at 3 wks after transverse aorta constriction (""pressure overload""), heterozygous hearts show significantly increased interstitial collagen accumulation relative to wild-type hearts