Rr496 Other Genome Feature Detail

Summary

• Symbol
  Rr496
• Name
  regulatory region 496
• Synonyms
  Pitx1-RA2

• Feature Type
  promoter
• IDs
  MGI:7666523
• Regulates expression of
  Pitx1 (1 regulated gene)

Location &
Maps

• Sequence Map
  Genome coordinates not available from the current reference assembly.

• Genetic Map
  Chromosome 13, Syntenic

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  3 phenotype references
  

• All Mutations and Alleles
  2
• Endonuclease-mediated
  2
• Find Mice (IMSR)
  0 strains or lines available

References

• Summaries
  All 4

  Phenotypes 3
• 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

Rr496 regulates expression of:

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