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Phenotypes Associated with This Genotype
Genotype
MGI:5911924
Allelic
Composition
Tg(Myh6-Sgcd*S151A)5Mcn/0
Genetic
Background
involves: 129T2/SvEms * C57BL/6J
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No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• heart to body weight ratios of 12 week old mice is increased

cardiovascular system
• 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
• heart to body weight ratios of 12 week old mice is increased
• mice show dilated cardiomyopathy at a young age
• however, focal fibrosis is hearts is not seen and the sarcolemmal membrane is intact

muscle
• 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
• mice show dilated cardiomyopathy at a young age
• however, focal fibrosis is hearts is not seen and the sarcolemmal membrane is intact

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/16/2021
MGI 6.16
The Jackson Laboratory