About   Help   FAQ
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
less
  • Sequence Map
    Genome coordinates not available from the current reference assembly.
  • Genetic Map
    Chromosome 11, Syntenic
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotypes from 1 allele in 2 genetic backgrounds
    3 phenotypes from multigenic genotypes
    3 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 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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    4
  • GO References
    1
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
References
more
  • Summaries
    All 4
    Gene Ontology 1
    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
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
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory