Rr597 Other Genome Feature Detail

Summary

• Symbol
  Rr597
• Name
  regulatory region 597
• Synonyms
  ECE20

• Feature Type
  enhancer
• IDs
  MGI:7855971
• Regulates expression of
  En1 (1 regulated gene)

Location &
Maps

• Sequence Map
  Genome coordinates not available from the current reference assembly.
• J:333368: chr1:121176848-121178300 (GRCm38) chr1:121104577-121106029 (GRCm39)

• Genetic Map
  Chromosome 1, Syntenic

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  3 phenotypes from 1 allele in 1 genetic background
  3 phenotypes from multigenic genotypes
  2 phenotype references
  

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

Homozygous deletion leads to a reduction in sweat gland number.

References

• Summaries
  All 3

  Phenotypes 2
• Earliest
  J:306748 Aldea D, et al., Repeated mutation of a developmental enhancer contributed to human thermoregulatory evolution. Proc Natl Acad Sci U S A. 2021 Apr 20;118(16):e2021722118
• Latest
  J:333368 Aldea D, et al., Differential modularity of the mammalian Engrailed 1 enhancer network directs sweat gland development. PLoS Genet. 2023 Feb;19(2):e1010614

Rr597 regulates expression of:

Feature	Feature Type	Location	Reference
En1, engrailed 1	protein coding gene	Chr1:120530246-120535719 (+)	J:333368