Rr598 Other Genome Feature Detail

Summary

• Symbol
  Rr598
• Name
  regulatory region 598
• Synonyms
  ECE18

• Feature Type
  enhancer
• IDs
  MGI:7855984
• Regulates expression of
  En1 (1 regulated gene)

Location &
Maps

• Sequence Map
  Chr1:121024493-121025555 bp

  From MGI annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI
• J:333368: chr1:121096764-121097826 (GRCm38) chr1:121024493-121025555 (GRCm39)

• Genetic Map
  Chromosome 1, Syntenic

Strain
Comparison

• SNPs within 2kb
  114 from dbSNP Build 142

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  3 phenotypes from multigenic genotypes
  2 phenotype references
  

• All Mutations and Alleles
  3
• Endonuclease-mediated
  3
• Find Mice (IMSR)
  0 strains or lines available

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

Rr598 regulates expression of:

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