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Rr274 Other Genome Feature Detail
Summary
  • Symbol
    Rr274
  • Name
    regulatory region 274
  • Synonyms
    EN2, R1-28, Vsx2-SE Region1
  • Feature Type
    enhancer
  • IDs
    MGI:7339269
  • Member of
    Rr272 cluster
Location &
Maps
more
  • Sequence Map
    Genome coordinates not available from the current reference assembly.
  • J:328714 Rr274 deletion: chr12:84539762-84543683 GRCm38 chr12:84586536-84590457 (GRCm39)
  • Genetic Map
    Chromosome 12, Syntenic
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    3 phenotypes from 4 alleles in 4 genetic backgrounds
    5 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.
Deletion of this Vsx2 enhancer results in retina hypoplasia and reduced visual acuity.
References
more
  • Summaries
    All 6
    Phenotypes 5
  • Earliest
    J:282593 Norrie JL, et al., Nucleome Dynamics during Retinal Development. Neuron. 2019 Nov 6;104(3):512-528.e11
  • Latest
    J:333875 Bian F, et al., Functional analysis of the Vsx2 super-enhancer uncovers distinct cis-regulatory circuits controlling Vsx2 expression during retinogenesis. Development. 2022 Aug 1;149(15):dev200642
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
11/12/2024
MGI 6.24 		The Jackson Laboratory