Tg(Myh6-MYL2*N47K)#Dsc
Transgene Detail

Summary

• Symbol: Tg(Myh6-MYL2*N47K)#Dsc
• Name: transgene insertion, Danuta Szczesna-Cordary
• MGI ID: MGI:4820519
• Synonyms: Tg-N47K
• Transgene: Tg(Myh6-MYL2*N47K)#Dsc Location: unknown
• Alliance: Tg(Myh6-MYL2*N47K)#Dsc page

Transgene origin

• Strain of Origin: Not Specified

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(Myh6-MYL2*N47K)#Dsc expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  MYL2 (4633)

  Myl2	(MGI:97272)

• Mutation details: The human ventricular myosin regulatory light chain with an asparagine to lysine substitution at amino acid 47 (N47K, a familial hypertrophic cardiomyopathy-linked mutation) is under the control of about 5.5 kb of the mouse alpha-myosin heavy chain promoter, including the first two exons and part of the third. Six lines (1,2,3,5,6,7) were generated, however the pound symbol (#) is used when the line is not specified or lines are pooled. (J:144685)

Disease models

Expression

In Structures Affected by this Mutation:

2 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:144685 Wang Y, et al., Prolonged Ca2+ and force transients in myosin RLC transgenic mouse fibers expressing malignant and benign FHC mutations. J Mol Biol. 2006 Aug 11;361(2):286-99
• All: 3 reference(s)