Rr115 Other Genome Feature Detail

Summary

• Symbol
  Rr115
• Name
  regulatory region 115
• Synonyms
  SBE2

• Feature Type
  enhancer
• IDs
  MGI:6836729

Location &
Maps

• Sequence Map
  Chr5:29080378-29081677 bp

  From MGI annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI
• chr5:29080378-29081677 between PCR primers

• Genetic Map
  Chromosome 5, Syntenic

Strain
Comparison

• SNPs within 2kb
  109 from dbSNP Build 142

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  5 phenotypes from 1 allele in 1 genetic background
  14 phenotypes from multigenic genotypes
  2 phenotype references
  

• All Mutations and Alleles
  3
• Endonuclease-mediated
  3
• Genomic Mutations
  2 involving Rr115
• Find Mice (IMSR)
  0 strains or lines available

Deletion of this Shh brain enhancer in conjunction with heterozygous loss of Shh affects hypothalamus and craniofacial bone development and is perinatal lethal.

References

• Summaries
  All 3

  Phenotypes 2
• Earliest
  J:282343 Sagai T, et al., SHH signaling mediated by a prechordal and brain enhancer controls forebrain organization. Proc Natl Acad Sci U S A. 2019 Nov 19;116(47):23636-23642
• Latest
  J:306254 Crane-Smith Z, et al., A Highly Conserved Shh Enhancer Coordinates Hypothalamic and Craniofacial Development. Front Cell Dev Biol. 2021;9:595744