Version: 8.0.0
Date: Tue Jan 28 2025
Ap3b2m1J
MGI:5302660
Allele of Ap3b2
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Ap3b2m1J

Species
Mus musculus
Symbol
Ap3b2m1J
Category
allele
Allele of gene
Ap3b2
Transgenic Constructs
None
Synonyms
None
Description
This spontaneous mutation has a 2 base pair (GT) deletion in Chromosome 7 base pairs 88,618,348 and 88,618,349, which falls in exon 15 and is predicted to cause a frameshift and stop codon at amino acid 572. Western blot analysis failed to detect this protein in homozygotes and detected only half-normal levels in heterozygotes.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
Annotation details
Source
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
    Evidence
    Source
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