Tg(Myh6-MYL3*E143K)2Dsc
Transgene Detail
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Symbol: |
Tg(Myh6-MYL3*E143K)2Dsc |
Name: |
transgene insertion 2, Danuta Szczesna-Cordary |
MGI ID: |
MGI:6315994 |
Transgene: |
Tg(Myh6-MYL3*E143K)2Dsc Location: unknown
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Alliance: |
Tg(Myh6-MYL3*E143K)2Dsc page
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Strain of Origin: |
Not Specified
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Transgene Type: |
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Transgenic (Humanized sequence, Inserted expressed sequence) |
Mutation: |
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Insertion
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Tg(Myh6-MYL3*E143K)2Dsc expresses
1 gene
Transgene expresses:
Organism |
Expressed Gene |
Homolog in Mouse |
Note |
human |
MYL3 (4634) |
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Contains the E143K mutation in patients with restrictive cardiomyopathy. |
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Mutation details: The human cardiac myosin essential light chain containing a glutamate to lysine change at amino acid 143 (E143K) is under the control of the cardiac specific alpha-MHC promoter. This mutation has been associated with restrictive cardiomyopathy in humans. Line 2 expresses about 55% of human essential light chain replacing the endogenous mouse cardiac essential light chain.
(J:258831)
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View phenotypes and curated references for all genotypes (concatenated display).
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Mouse strains and cell lines
available from the International Mouse Strain Resource
(IMSR) |
Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available
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Original: |
J:258831 Yuan CC, et al., Hypercontractile mutant of ventricular myosin essential light chain leads to disruption of sarcomeric structure and function and results in restrictive cardiomyopathy in mice. Cardiovasc Res. 2017 Aug 1;113(10):1124-1136 |
All: |
2 reference(s) |
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