Allele/Variant

Tbc1d20bs

Species
Mus musculus
Symbol
Tbc1d20bs
Category
allele
Allele of gene
Tbc1d20
Transgenic Constructs
None
Synonyms
None
Description
Positional cloning identified a c.691T>A substitution and c.692_703del deletion (in-frame p.Arg232_Val235 deletion) in exon 6, which togther result in p.Phe231_Val235delinsMet. Functional analysis indicates this is a loss of function mutation.
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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