Rr347 Other Genome Feature Detail

Summary

• Symbol
  Rr347
• Name
  regulatory region 347
• Synonyms
  FIRE

• Feature Type
  enhancer
• IDs
  MGI:7431466

Location &
Maps

• Sequence Map
  Genome coordinates not available from the current reference assembly.
• J:281171 supp. fig1b: estimated position chr18:61268230-61268580 (NCBIm37) chr18:61241648-61241998 (GRCm39)

• Genetic Map
  Chromosome 18, Syntenic

Mutations,
Alleles, and
Phenotypes

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

• All Mutations and Alleles
  1
• Endonuclease-mediated
  1
• 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 7

  Phenotypes 7
• 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:348406 Surala M, et al., Lifelong absence of microglia alters hippocampal glutamatergic networks but not synapse and spine density. EMBO Rep. 2024 May;25(5):2348-2374