Rnu2-8 Gene Detail

Summary

• Symbol
  Rnu2-8
• Name
  U2 small nuclear RNA 8
• Synonyms
  nmf291

• Feature Type
  snRNA gene
• IDs
  MGI:5305946
• Alliance
  gene page

Location &
Maps

• Sequence Map
  Genome coordinates not available from the current reference assembly.

• Genetic Map
  Chromosome 11, Syntenic

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  10 phenotypes from 1 allele in 2 genetic backgrounds
  3 phenotypes from multigenic genotypes
  3 phenotype references
  

• All Mutations and Alleles
  1
• Chemically induced (other)
  1
• Find Mice (IMSR)
  1 strains or lines available

Mice homozygous for a chemically-induced mutation develop tremors that progress to truncal ataxia and display an abnormal gait, a small cerebellum, and progressive hind limb weakness and cerebellar granule cell degeneration. Heterozygotes develop late onset tremors and granule cell degeneration.

References

• Summaries
  All 4

  Phenotypes 3
• Earliest
  J:179357 Jia Y, et al., Mutation of a U2 snRNA gene causes global disruption of alternative splicing and neurodegeneration. Cell. 2012 Jan 20;148(1-2):296-308
• Latest
  J:354967 Meng D, et al., A molecular brake that modulates spliceosome pausing at detained introns contributes to neurodegeneration. Protein Cell. 2023 May 8;14(5):318-336