Phenotypes Associated with This Genotype

Genotype
MGI:6514899

• Allelic Composition: Nexn^tm1Chen/Nexn^tm1Chen; Tg(myl7.L-cre)1118Tmhn/0
• Genetic Background: involves: MF1

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

mortality/aging

postnatal lethality, complete penetrance ( J:290931 )

• all mice die before P12

growth/size/body

increased heart weight ( J:290931 )

• heart weight to body weight and heart weight to tibial length ratios are increased starting at P5

decreased body size ( J:290931 )

decreased body weight ( J:290931 )

cardiovascular system

abnormal myocardial fiber morphology ( J:290931 )

• cardiomyocytes from P5 mice do not show membrane invaginations typical of initial T-tubule formation and organized T-tubules are completely absent at P10

• in E18.5 cardiomyocytes, the 12 nm peripheral junctions are decreased, while the 30 nm junctions are increased, indicating impaired associations between the sarcoplasmic reticulum and sarcolemma

• however, cardiomyocytes show no alteration of sarcomeres or Z-disc structure

increased heart weight ( J:290931 )

• heart weight to body weight and heart weight to tibial length ratios are increased starting at P5

dilated cardiomyopathy ( J:290931 )

• mice develop progressive dilated cardiomyopathy

abnormal heart echocardiography feature ( J:290931 )

• echocardiography shows altered cardiac function, with decreased percent fractional shortening seen at P1, P5 and P10, and increased left ventricular diameter at end-diastole and end-systole at P5 and P10

abnormal myocardial fiber physiology ( J:290931 )

• cardiomyocytes isolated at E18.5 exhibit reduced amplitude of calcium transients and slower decay of the calcium transient (Tau)

homeostasis/metabolism

abnormal ventricular thrombosis ( J:290931 )

• hearts show organized thrombus in the left ventricle of the heart

muscle

abnormal myocardial fiber morphology ( J:290931 )

• cardiomyocytes from P5 mice do not show membrane invaginations typical of initial T-tubule formation and organized T-tubules are completely absent at P10

• in E18.5 cardiomyocytes, the 12 nm peripheral junctions are decreased, while the 30 nm junctions are increased, indicating impaired associations between the sarcoplasmic reticulum and sarcolemma

• however, cardiomyocytes show no alteration of sarcomeres or Z-disc structure

dilated cardiomyopathy ( J:290931 )

• mice develop progressive dilated cardiomyopathy

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy 1CC		DOID:0110424	OMIM:613122	J:290931