Version: 8.0.0
Date: Tue Jan 28 2025
Ss18l1em2Zqi
MGI:6401517
Allele of Ss18l1
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Ss18l1em2Zqi

Species
Mus musculus
Symbol
Ss18l1em2Zqi
Category
allele
Allele of gene
Ss18l1
Transgenic Constructs
None
Synonyms
  • CrestQ394X
Description
CRISPR/Cas9 technology generated a glutamine to X change at amino acid 394 (Q394X) in exon 10. This corresponds to the Q388X mutation seen in some sporadic amyotrophic lateral sclerosis patients. Western blot analysis indicates that protein levels are reduced about 20% in the brain and spinal cord of homozygotes.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
    Evidence
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