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
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  MYL3 (4634)

  Myl3	(MGI:97268)

  Contains the E143K mutation in patients with restrictive cardiomyopathy.

• 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)

Disease models

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)