Tg(Myh6-JUP*)1Dpju
Transgene Detail

Summary

• Symbol: Tg(Myh6-JUP*)1Dpju
• Name: transgene insertion 1, Daniel P Judge
• MGI ID: MGI:6501730
• Synonyms: JUP^2157del2
• Transgene: Tg(Myh6-JUP*)1Dpju Location: unknown
• Alliance: Tg(Myh6-JUP*)1Dpju page

Transgene origin

• Strain of Origin: FVB/N

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(Myh6-JUP*)1Dpju expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  JUP (3728)

  Jup	(MGI:96650)

  2 bp deletion seen in Naxos disease

• Mutation details: The human plakoglobin cDNA with a 2 bp deletion at nucleotides 2157 and 2158 is under the control of the cardiac-specific mouse alpha-myosin heavy chain promoter. This 2 bp deletion is seen in individuals with Naxos disease. Four lines were generated but only one founder line was propagated in which expression of the exogenous truncated protein is at roughly equivalent levels to expression of the wild-type endogenous mouse protein. (J:235770)

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:235770 Chelko SP, et al., Central role for GSK3beta in the pathogenesis of arrhythmogenic cardiomyopathy. JCI Insight. 2016 Apr 21;1(5)
• All: 2 reference(s)