Allele/Variant

SordC57BL/Lia

Species
Mus musculus
Symbol
SordC57BL/Lia
Category
allele
Allele of gene
Sord
Transgenic Constructs
None
Synonyms
  • SD-
  • SDH null
Description
A G-to-A substitution at the first nucleotide of intron 8 eliminates exon 8 splice donor site G-GT by changing it G-AT. This results in aberrantly spliced transcripts that do not encode a functional protein. Western blot analysis demonstrated a lack of encoded protein in a number of tissues tested when compared to controls, and activity assays fail to detect active protein in null tissue extracts.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
Annotation details
Source
References
No records match query. Try removing filters.
Showing 0 - 0 of 0 rows
per page

    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
    Evidence
    Source
    References
    No records match query. Try removing filters.
    Showing 0 - 0 of 0 rows
    per page