Allele/Variant

Copg1em1Geha

Species
Mus musculus
Symbol
Copg1em1Geha
Category
allele
Allele of gene
Copg1
Transgenic Constructs
None
Synonyms
  • Copg1K652E
Description
Lysine codon 652 (AAA) in exon 19 was changed to glutamic acid (GAA) (c.1954A>G:p.K652E) using an sgRNA and an ssODN template with CRISPR/Cas9. The mutation, in the appendage domain of the encoded peptide, is the equivalent of the same human mutation associated with combined immunodeficiency (CID).
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
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