Rr20 Other Genome Feature Detail

Summary

• Symbol
  Rr20
• Name
  regulatory region 20
• Synonyms
  ECR5

• Feature Type
  enhancer
• IDs
  MGI:5441844

Location &
Maps

• Sequence Map
  Genome coordinates not available from the current reference assembly.
• chr11:101782666-101782996

• Genetic Map
  Chromosome 11, Syntenic

Human Diseases

• Diseases
  1 with Rr20 mouse models

Human Disease

Mouse Models

SOST-related sclerosing bone dysplasia

IDs

SOST-related sclerosing bone dysplasia      

DOID:0080036
DOID:0080035
OMIM:239100
ORDO:3152

View 1 model

Mouse Models

Human Disease Modeled: SOST-related sclerosing bone dysplasia

Allelic Composition	Genetic Background	Reference	Phenotypes
Rr20tm1.1Vlcg/Rr20tm1.1Vlcg	involves: 129S6/SvEvTac * C57BL/6NTac	J:188586	View

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

• Mutations/Alleles
  1 with disease annotations

• References
  1 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  9 phenotypes from 1 allele in 1 genetic background
  1 images
  2 phenotype references
  

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

Mice homozygous for a knock-out allele exhibit reduced and variable expression of Sost with increased bone formation and bone mass.

References

• Summaries
  All 3

  Diseases 1

  Phenotypes 2
• Earliest
  J:188586 Collette NM, et al., Targeted deletion of Sost distal enhancer increases bone formation and bone mass. Proc Natl Acad Sci U S A. 2012 Aug 28;109(35):14092-7
• Latest
  J:255350 Robling AG, et al., Sost, independent of the non-coding enhancer ECR5, is required for bone mechanoadaptation. Bone. 2016 Nov;92:180-188