Rr593 Other Genome Feature Detail

Summary

• Symbol
  Rr593
• Name
  regulatory region 593
• Synonyms
  Actn2 enh

• Feature Type
  enhancer
• IDs
  MGI:7852465

Location &
Maps

• Sequence Map
  Genome coordinates not available from the current reference assembly.
• chr13:12371881-12373182 (GRCm39)

• Genetic Map
  Chromosome 13, Syntenic

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  5 phenotypes from 1 allele in 1 genetic background
  1 phenotype reference
  

• All Mutations and Alleles
  1
• Endonuclease-mediated
  1
• Find Mice (IMSR)
  0 strains or lines available

Hetero- or homozygous deletion of this Actn2 enhancer leads to cardiac and myocardial hypertrophy, dilated left cardiac ventricle with left reduced ventricle muscle contractility, and reduced sarcomere length in cardiomyocytes.

References

• Summaries
  All 2

  Phenotypes 1
• Earliest
  J:358600 Htet M, et al., A transcriptional enhancer regulates cardiac maturation. Nat Cardiovasc Res. 2024 Jun;3(6):666-684