Allele/Variant

Coa8em1Zev

Species
Mus musculus
Symbol
Coa8em1Zev
Category
allele
Allele of gene
Coa8
Transgenic Constructs
None
Synonyms
None
Description
The molecular lesion, created using CRISPR/Cas9 technology, is a substitution of an A with a TG doublet in exon 2 (c.164delAinsTG, mRNA sequence GenBank NM_026511), which generates a frameshift resulting in a truncated protein (p.Asp55Valfs*20). Skeletal muscle and liver mRNA levels were reduced to 25% and 50%, respectively.
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
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