Version: 8.0.0
Date: Tue Jan 28 2025
Ap3b1m2Btlr
MGI:6197805
Allele of Ap3b1
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Ap3b1m2Btlr

Species
Mus musculus
Symbol
Ap3b1m2Btlr
Category
allele
Allele of gene
Ap3b1
Transgenic Constructs
None
Synonyms
  • bella
Description
ENU-induced A to T transversion at base pair 94,528,257 (v38) on chromosome 13, or base pair 169,678 in the GenBank genomic region NC_000079 encoding Ap3b1. The mutation corresponds to residue 2,847 in the mRNA sequence NM_009680 within exon 23 of 27 total exons. The mutation results in an arginine to serine substitution at position 901 (R901S) in the AP3B1 protein.
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
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