Rr347 Other Genome Feature Detail

Summary

• Symbol
  Rr347
• Name
  regulatory region 347
• Synonyms
  FIRE

• Feature Type
  enhancer
• IDs
  MGI:7431466
• Regulates expression of
  Csf1r (1 regulated gene)

Location &
Maps

• Sequence Map
  Chr18:61241648-61241998 bp

  From MGI annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI
• J:281171 supp. fig1b: estimated position chr18:61268230-61268580 (NCBIm37) chr18:61241648-61241998 (GRCm39)

• Genetic Map
  Chromosome 18, Syntenic

Strain
Comparison

• SNPs within 2kb
  105 from dbSNP Build 142

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  23 phenotypes from 1 allele in 2 genetic backgrounds
  11 phenotype references
  

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

Deletion of the Csf1r super-enhancer leads to absence or reduced numbers of specific macrophages in embryos and certain adult tissues. Homozygous deletion in C57BL/6 background leads to hydrocephalus and premature death.

References

• Summaries
  All 12

  Phenotypes 11
• Earliest
  J:281171 Rojo R, et al., Deletion of a Csf1r enhancer selectively impacts CSF1R expression and development of tissue macrophage populations. Nat Commun. 2019 Jul 19;10(1):3215
• Latest
  J:362506 O'Keeffe M, et al., Typical development of synaptic and neuronal properties can proceed without microglia in the cortex and thalamus. Nat Neurosci. 2025 Feb;28(2):268-279

Rr347 regulates expression of:

Feature	Feature Type	Location	Reference
Csf1r, colony stimulating factor 1 receptor	protein coding gene	Chr18:61238644-61264211 (+)	J:281171