Tg(Myh6-NEBL*A592E)#Jato
Transgene Detail

Summary

• Symbol: Tg(Myh6-NEBL*A592E)#Jato
• Name: transgene insertion, Jeffrey A Towbin
• MGI ID: MGI:5907160
• Transgene: Tg(Myh6-NEBL*A592E)#Jato Location: unknown
• Alliance: Tg(Myh6-NEBL*A592E)#Jato page

Transgene origin

• Strain of Origin: Not Specified

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(Myh6-NEBL*A592E)#Jato expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  NEBL (10529)

  Nebl	(MGI:1921353)

• Mutation details: The murine alpha-myosin heavy chain promotor drives the cardiac-specific expression of the full-length 3.1 kb human nebulette cDNA containing the c.1775C>A substitution in exon 17 resulting in an alanine to glutamate change at codon 592 (A592E). This is one variant identified in patients with dilated cardiomyopathy and endocardial fibroelastosis. The pound symbol (#) is used when line is not specified and/or lines are pooled. (J:242962)

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:242962 Purevjav E, et al., Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis. J Am Coll Cardiol. 2010 Oct 26;56(18):1493-502
• All: 3 reference(s)