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Phenotypes Associated with This Genotype
Genotype
MGI:5755254
Allelic
Composition
Tg(Myh6-Tnnt2*R92Q)2Lnwd/0
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• myocytes exhibit lipid deposition and increased number of mitochondria with evidence of mitochondrial degeneration
• varying degrees of myocellular degeneration
• decrease in myocyte size, with mean area of myocytes about 18% smaller than controls
• progressive atrial hypertrophy
• progressive atrial hypertrophy
• hearts exhibit expression of hypertrophic markers
• ventricular mass decreases by about 18%
• hearts show small areas of myocardial fibrosis
• extent of myocyte shortening is smaller, during pacing, myocyte-shortening rate and velocity are both slower, and myocyte relaxation and overall contraction times are prolonged, indicating impaired myocyte contraction and relaxation
• hearts subjected to a stepwise increase in cardiac workload exhibit hypercontractility
• impairment of diastolic function that is largely restricted to the early diastolic/late phase of relaxation (136% increase in Tau, the time constant of ventricular relaxation), whereas the initial fast phase of the diastolic pressure drop is unaffected, resulting in a prolongation of isovolumic relaxation
• extent of myocyte shortening is smaller, during pacing, myocyte-shortening rate and velocity are both slower, and myocyte relaxation and overall contraction times are prolonged, indicating impaired myocyte contraction and relaxation
• mice exhibit higher intrinsic heart rates
• in the presence of 2,3-butanedionemonoxime (BDM) which disrupts force-producing cross-bridge formation, myocytes are longer and narrower indicating an increase in sarcomeric activation
• extent of myocyte shortening is smaller, during pacing, myocyte-shortening rate and velocity are both slower, and myocyte relaxation and overall contraction times are prolonged, indicating impaired myocyte contraction and relaxation
• mild inflammation in the heart

immune system
• mild inflammation in the heart

muscle
• myocytes exhibit lipid deposition and increased number of mitochondria with evidence of mitochondrial degeneration
• varying degrees of myocellular degeneration
• decrease in myocyte size, with mean area of myocytes about 18% smaller than controls
• extent of myocyte shortening is smaller, during pacing, myocyte-shortening rate and velocity are both slower, and myocyte relaxation and overall contraction times are prolonged, indicating impaired myocyte contraction and relaxation
• hearts subjected to a stepwise increase in cardiac workload exhibit hypercontractility
• impairment of diastolic function that is largely restricted to the early diastolic/late phase of relaxation (136% increase in Tau, the time constant of ventricular relaxation), whereas the initial fast phase of the diastolic pressure drop is unaffected, resulting in a prolongation of isovolumic relaxation
• extent of myocyte shortening is smaller, during pacing, myocyte-shortening rate and velocity are both slower, and myocyte relaxation and overall contraction times are prolonged, indicating impaired myocyte contraction and relaxation
• sarcomere lengths are shorter in left ventricular myocytes
• however, sarcomeric structure is intact

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
hypertrophic cardiomyopathy 2 DOID:0110308 OMIM:115195
J:56911


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
06/11/2019
MGI 6.14
The Jackson Laboratory