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Rr249 Other Genome Feature Detail
Summary
  • Symbol
    Rr249
  • Name
    regulatory region 249
  • Synonyms
    Gata2 +9.5
  • Feature Type
    enhancer
  • IDs
    MGI:7330386
Location &
Maps
more
  • Sequence Map
    Chr6:88180138-88180212 bp
    From MGI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • J:316415 Fig.3A sequence: chr6:88180138-88180212 (GRCm39)
  • Genetic Map
    Chromosome 6, Syntenic
Strain
Comparison
more
  • SNPs within 2kb
    42 from dbSNP Build 142
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 1 allele in 1 genetic background
    3 images
    7 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.
References
more
  • Summaries
    All 8
    Phenotypes 7
  • Earliest
    J:191756 Johnson KD, et al., Cis-element mutated in GATA2-dependent immunodeficiency governs hematopoiesis and vascular integrity. J Clin Invest. 2012 Oct 1;122(10):3692-704
  • Latest
    J:316415 Soukup AA, et al., Conditionally pathogenic genetic variants of a hematopoietic disease-suppressing enhancer. Sci Adv. 2021 Dec 10;7(50):eabk3521
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)
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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