Rr494 Other Genome Feature Detail

Summary

• Symbol
  Rr494
• Name
  regulatory region 494
• Synonyms
  Pitx1-RA4

• Feature Type
  enhancer
• IDs
  MGI:7666423
• Regulates expression of
  Pitx1 (1 regulated gene)

Location &
Maps

• Sequence Map
  Chr13:56213562-56218486 bp

  From MGI annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI
• J:268374: chr13:56167110-56172034 (mm9) chr13:56213562-56218486 (GRCm39)

• Genetic Map
  Chromosome 13, Syntenic

Strain
Comparison

• SNPs within 2kb
  234 from dbSNP Build 142

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  2 phenotype references
  

• All Mutations and Alleles
  4
• Endonuclease-mediated
  4
• Genomic Mutations
  4 involving Rr494
• Find Mice (IMSR)
  0 strains or lines available

References

• Summaries
  All 3

  Phenotypes 2
• Earliest
  J:268374 Kragesteen BK, et al., Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis. Nat Genet. 2018 Oct;50(10):1463-1473
• Latest
  J:369576 Bompadre O, et al., Liebenberg syndrome severity arises from variations in Pitx1 locus topology and proportion of ectopically transcribing cells. Nat Commun. 2025 Jul 9;16(1):6321

Rr494 regulates expression of:

Feature	Feature Type	Location	Reference
Pitx1, paired-like homeodomain transcription factor 1	protein coding gene	Chr13:55972864-55984005 (-)	J:268374