Tg(Myh6-MYOZ2*S48P)114Ajm
Transgene Detail

Summary

• Symbol: Tg(Myh6-MYOZ2*S48P)114Ajm
• Name: transgene insertion 114, Ali J Marian
• MGI ID: MGI:5581488
• Synonyms: MYOZ2^S48P
• Transgene: Tg(Myh6-MYOZ2*S48P)114Ajm Location: unknown
• Alliance: Tg(Myh6-MYOZ2*S48P)114Ajm page

Transgene origin

• Strain of Origin: Not Specified

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(Myh6-MYOZ2*S48P)114Ajm expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  MYOZ2 (51778)

  Myoz2

  (MGI:1913063)

• Mutation details: The human MYOZ2 with the S48P mutation is under the control of the cardiac-restricted alpha-myosin heavy chain. Three sequential FLAG sequences were positioned in frame 5' to the MYOZ2 cDNA. One line was generated. (J:210073)

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:210073 Ruggiero A, et al., Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity. Cardiovasc Res. 2013 Jan 1;97(1):44-54
• All: 2 reference(s)