Rr320 Other Genome Feature Detail

Summary

• Symbol
  Rr320
• Name
  regulatory region 320
• Synonyms
  Hbb-ar, hemoglobin beta LCR, HS1, HS2, HS3, HS4, HS5, LCR, locus control region

• Feature Type
  locus control region
  BioType Conflict
  
• IDs
  MGI:7384456
  NCBI Gene: 15128
• Member of
  Hbb cluster

Location &
Maps

• Sequence Map
  Chr7:103501973-103526752 bp, + strand

  From NCBI annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 7, Syntenic
• Mapping Data
  2 experiments

Strain
Comparison

• SNPs within 2kb
  476 from dbSNP Build 142

Human Diseases

• Diseases
  1 with Rr320 mouse models

Human Disease

Mouse Models

beta thalassemia

IDs

beta thalassemia      

DOID:12241
ICD10CM:D56.1
ICD9CM:282.44
MESH:D017086
NCI:C34375
OMIM:613985
ORDO:848
UMLS_CUI:C0005283

View 2 models

Mouse Models

Human Disease Modeled: beta thalassemia

Allelic Composition	Genetic Background	Reference	Phenotypes
Rr320tm2Mkg/Rr320tm2Mkg	involves: 129S4/SvJaeSor	J:28981	View
Rr320tm1.1Mkg/Rr320+	involves: 129	J:60714	View

NOT Models
No similarity to the expected human disease phenotype was found.

Allelic Composition	Genetic Background	Reference	Phenotypes
Del(7Or2h1-Rr320)1Mkg/+	involves: 129	J:139198	View

Click on a disease name to see all genes associated with that disease.

• Mutations/Alleles
  2 with disease annotations

• References
  3 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  19 phenotypes from 6 alleles in 4 genetic backgrounds
  13 phenotype references
  

• All Mutations and Alleles
  16
• Targeted
  16
• Genomic Mutations
  1 involving Rr320
• Find Mice (IMSR)
  0 strains or lines available

Mice homozygous for various alleles for this exhibit varying effects on Hbb expression.

Sequences &
Gene Models

• All Sequences
  5
• RefSeq
  1

• NCBI Gene
  15128

Representative Sequences			Length	Strain/Species
genomic	15128	NCBI Gene Model | MGI Sequence Detail	24780	C57BL/6J

Molecular
Reagents

• All nucleic 4

  Genomic 4

Other
Accession IDs

MGD-MRK-19428, MGI:102559

References

• Summaries
  All 58

  Diseases 3

  Phenotypes 13
• Earliest
  J:22204 Moon AM, et al., Conservation of the primary structure, organization, and function of the human and mouse beta-globin locus-activating regions. Proc Natl Acad Sci U S A. 1990 Oct;87(19):7693-7
• Latest
  J:305160 Gurumurthy A, et al., Super-enhancer mediated regulation of adult beta-globin gene expression: the role of eRNA and Integrator. Nucleic Acids Res. 2021 Feb 22;49(3):1383-1396