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Ap3b1m1Btlr
Chemically induced Allele Detail
Summary
Symbol: Ap3b1m1Btlr
Name: adaptor-related protein complex 3, beta 1 subunit; mutation 1, Bruce Beutler
MGI ID: MGI:3776785
Synonyms: Ap3b1bullet gray, bullet gray
Gene: Ap3b1  Location: Chr13:94495468-94702825 bp, + strand  Genetic Position: Chr13, 49.22 cM
Alliance: Ap3b1m1Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThe mutation is a G-to-T transversion in the donor splice site of intron 13 (GT -> TT) (position 92056 in Genbank genomic region NC_000079). It is predicted to result in skipping of the 133-nucleotide exon 13 (of 27 total exons) and to shift the reading frame after codon 411, leading to a premature termination codon following codon 412. (J:132673)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 3 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Ap3b1 Mutation:  96 strains or lines available
References
Original:  J:132673 Rutschmann S, et al., Bullet gray, a new ENU-induced mutation of Ap3b1. MGI Direct Data Submission. 2008;
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory