Rr468 Other Genome Feature Detail

Summary

• Symbol
  Rr468
• Name
  regulatory region 468
• Synonyms
  Thrb enhancer

• Feature Type
  intronic regulatory region
• IDs
  MGI:7579303

Location &
Maps

• Sequence Map
  Genome coordinates not available from the current reference assembly.

• Genetic Map
  Chromosome 14, Syntenic

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  3 phenotypes from 3 alleles in 2 genetic backgrounds
  1 phenotype reference
  

• All Mutations and Alleles
  3
• Targeted
  3
• Find Mice (IMSR)
  0 strains or lines available

Homozygosity for deletion or mutation of an intronic enhancer leads to impaired responses to medium-long wavelength light.

References

• Summaries
  All 2

  Phenotypes 1
• Earliest
  J:335506 Liu H, et al., Noncoding Mutations in a Thyroid Hormone Receptor Gene That Impair Cone Photoreceptor Function. Endocrinology. 2023 Jan 9;164(3)