Allele/Variant

TasorMommeD20

Species
Mus musculus
Symbol
TasorMommeD20
Category
allele
Allele of gene
Tasor
Transgenic Constructs
None
Synonyms
None
Description
Mice carrying Tg(Hba1-Gfp)1Ew were treated with ENU. A single base pair, T to C mutation, was detected in intron 1 at the a canonical splice site for exon 1/intron 1. Both the wild-type and a higher molecular weight mutant PCR product are detected in heterozygous mice. The aberrant splice product results in the incorporation of an additional 1,160 nucleotides. The resulting protein is predicted to incorporate 79 additional amino acids followed by a premature stop codon and be subject to nonsense mediated decay. Western blot analysis of testis lysates from heterozygous mice revealed reduced protein expression.
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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