Phenotypes Associated with This Genotype

Genotype
MGI:5911924

• Allelic Composition: Tg(Myh6-Sgcd*S151A)5Mcn/0
• Genetic Background: involves: 129T2/SvEms * C57BL/6J

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

cardiovascular system

abnormal myocardial fiber morphology ( J:117855 )

• mice show a trend towards increased cardiomyocyte diameter with an increase in the variability of cardiomyocyte size

• delta-sarcoglycan is sequestered into the nucleus instead of the plasma membrane along with partial nuclear sequestration of beta- and gamma-sarcoglycan, and mislocalization of lamin A/C and emerin throughout the nucleoplasm

increased heart weight ( J:117855 )

• heart to body weight ratios of 12 week old mice is increased

dilated cardiomyopathy ( J:117855 )

• mice show dilated cardiomyopathy at a young age

• however, focal fibrosis is hearts is not seen and the sarcolemmal membrane is intact

muscle

abnormal myocardial fiber morphology ( J:117855 )

• mice show a trend towards increased cardiomyocyte diameter with an increase in the variability of cardiomyocyte size

• delta-sarcoglycan is sequestered into the nucleus instead of the plasma membrane along with partial nuclear sequestration of beta- and gamma-sarcoglycan, and mislocalization of lamin A/C and emerin throughout the nucleoplasm

dilated cardiomyopathy ( J:117855 )

• mice show dilated cardiomyopathy at a young age

• however, focal fibrosis is hearts is not seen and the sarcolemmal membrane is intact

growth/size/body

increased heart weight ( J:117855 )

• heart to body weight ratios of 12 week old mice is increased

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy 1L		DOID:0110436	OMIM:606685	J:117855