Version: 8.0.0
Date: Tue Jan 28 2025
Btkvila
MGI:4820731
Allele of Btk
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Btkvila

Species
Mus musculus
Symbol
Btkvila
Category
allele
Allele of gene
Btk
Transgenic Constructs
None
Synonyms
None
Description
The mutation has been identified as a C to T transition at nucleotide position 722 of the cDNA sequence (ENSMUST00000113214), which replaces the triplet encoding glutamine at amino acid (aa) position 196 of the 659 aa protein with a stop codon (Q196Ter).
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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