Allele/Variant

Vps52t-w5

Species
Mus musculus
Symbol
Vps52t-w5
Category
allele
Allele of gene
Vps52
Transgenic Constructs
None
Synonyms
None
Description
A 2 nucleotide insertion of GG is detected at the start of exon 2 in a stretch of consecutive G nucleotides (9 in the wild-type C57BL/6 sequence) resulting in a frameshift mutation that generates a premature termination codon. Western blot analysis with an antibody directed against amino acids 496-509 does not detect the protein band in homozygous embryonic stem cells. This mutation is found in the tw5 haplotype.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

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    Disease Associations

    Association
    Disease Qualifier
    Disease
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