Rr504 Other Genome Feature Detail

Summary

• Symbol
  Rr504
• Name
  regulatory region 504
• Synonyms
  mXYSRa, Sox9 Enh13

• Feature Type
  enhancer
• IDs
  MGI:7707766

Location &
Maps

• Sequence Map
  Chr11:112108104-112108661 bp

  From MGI annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI
• J:263354 Enh13 chr11:112078592-112079149 (mm9) chr11:112108104-112108661 (GRCm39) J:268099 mXYSRa chr11:112107994-112108797 (GRCm39)

• Genetic Map
  Chromosome 11, Syntenic

Strain
Comparison

• SNPs within 2kb
  137 from dbSNP Build 142

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  8 phenotypes from 5 alleles in 5 genetic backgrounds
  3 phenotype references
  

• All Mutations and Alleles
  7
• Endonuclease-mediated
  7
• Find Mice (IMSR)
  0 strains or lines available

Deletion of the enhancer leads to male-to-female sex-reversal.

References

• Summaries
  All 4

  Phenotypes 3
• Earliest
  J:263354 Gonen N, et al., Sex reversal following deletion of a single distal enhancer of Sox9. Science. 2018 Jun 29;360(6396):1469-1473
• Latest
  J:334329 Ogawa Y, et al., SOX9 and SRY binding sites on mouse mXYSRa/Enh13 enhancer redundantly regulate Sox9 expression to varying degrees. Hum Mol Genet. 2023 Jan 1;32(1):55-64