Rr513 Other Genome Feature Detail

Summary

• Symbol
  Rr513
• Name
  regulatory region 513
• Synonyms
  PEC7

• Feature Type
  enhancer
• IDs
  MGI:7711735
• Regulates expression of
  Pax1 (1 regulated gene)

Location &
Maps

• Sequence Map
  Chr2:147408057-147409844 bp

  From MGI annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI
• J:346374: chr2:147,566,137147,567,924; mm10 chr2:147408057-147409844 (GRCm39)

• Genetic Map
  Chromosome 2, Syntenic

Strain
Comparison

• SNPs within 2kb
  215 from dbSNP Build 142

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  1 phenotype reference
  

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

References

• Summaries
  All 2

  Phenotypes 1
• Earliest
  J:346374 Ushiki A, et al., Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality. Cell Rep. 2024 Mar 8;43(3):113907

Rr513 regulates expression of:

Feature	Feature Type	Location	Reference
Pax1, paired box 1	protein coding gene	Chr2:147203850-147216972 (+)	J:346374