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Tg(Myh6-MYL3*E143K)2Dsc
Transgene Detail
Summary
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  
Alliance: Tg(Myh6-MYL3*E143K)2Dsc page
Transgene
origin
Strain of Origin:  Not Specified
Transgene
description
Transgene Type:    Transgenic (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
 
Tg(Myh6-MYL3*E143K)2Dsc expresses 1 gene
 
Mutation detailsThe 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 3 anatomical structure(s)
Find Mice (IMSR)
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
References
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)

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
10/29/2024
MGI 6.24
The Jackson Laboratory