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Snord116 Complex/Cluster/Region Detail
Summary
  • Symbol
    Snord116
  • Name
    small nucleolar RNA, C/D box 116 cluster
  • Synonyms
    MBII-85, Pwcr1
Location &
Maps
more
  • Sequence Map
    Genome coordinates not available from the current reference assembly.
  • Genetic Map
    Chromosome 7, Syntenic
  • Mapping Data
    3 experiments
Human Diseases
more
  • Diseases
    1 with Snord116 mouse models

Human Disease Mouse Models
      
IDs
 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    29 phenotypes from 3 alleles in 2 genetic backgrounds
    20 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.
The Snord116 gene cluster is imprinted and only expressed from the paternal allele. Deletions of the Snord116 cluster may be useful in studying the role of Snord116 in growth and feeding regulation, mechanisms of obesity, and pathophysiology of Prader-Willi syndrome (PWS).
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    22
  • Tissues
    13
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Other Mouse Links
      GEO
    Sequences &
    Gene Models
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    • All Sequences
      3
    Representative SequencesLengthStrain/SpeciesFlank
    genomic AC026683 GenBank | ENA | DDBJ | MGI Sequence Detail 179493 C57BL/6J ±  kb
    transcript AF241256 GenBank | ENA | DDBJ | MGI Sequence Detail 2518 Not Specified  
    For the selected sequence
    Molecular
    Reagents
    less
    • All nucleic 8
      Genomic 1
      cDNA 3
      Primer pair 3
      Other 1

      Microarray probesets 4
    References
    more
    • Summaries
      All 40
      Developmental Gene Expression 10
      Diseases 1
      Phenotypes 20
    • Earliest
      J:65556 de Los Santos T, et al., Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the prader-willi deletion region, which Is highly expressed in brain. Am J Hum Genet. 2000 Nov;67(5):1067-82
    • Latest
      J:349477 Bhalla K, et al., Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome. Biochim Biophys Acta Mol Basis Dis. 2024 Apr 16;1870(5):167175
    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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    12/10/2024
    MGI 6.24     		The Jackson Laboratory