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Rr20 Other Genome Feature Detail
Summary
  • Symbol
    Rr20
  • Name
    regulatory region 20
  • Synonyms
    ECR5
  • Feature Type
    enhancer
  • IDs
    MGI:5441844
Location &
Maps
more
  • Sequence Map
    Chr11:101812178-101812508 bp
    From MGI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • chr11:101782666-101782996
  • Genetic Map
    Chromosome 11, Syntenic
Strain
Comparison
more
  • SNPs within 2kb
    141 from dbSNP Build 142
Human Diseases
more
  • Diseases
    1 with Rr20 mouse models

Human Disease Mouse Models
      
IDs
 View 1 model
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
less
  • Phenotype Summary
    9 phenotypes from 1 allele in 1 genetic background
    1 images
    2 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit reduced and variable expression of Sost with increased bone formation and bone mass.
References
more
  • 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
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory