Primary Identifier | MGI:6315994 | Allele Type | Transgenic |
Attribute String | Humanized sequence, Inserted expressed sequence | Gene | Tg(Myh6-MYL3*E143K)2Dsc |
Strain of Origin | Not Specified | Is Recombinase | false |
Is Wild Type | false |
molecularNote | 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. |