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Ap3b1m2Btlr
Chemically induced Allele Detail
Summary
Symbol: Ap3b1m2Btlr
Name: adaptor-related protein complex 3, beta 1 subunit; mutation 2, Bruce Beutler
MGI ID: MGI:6197805
Synonyms: bella
Gene: Ap3b1  Location: Chr13:94495468-94702825 bp, + strand  Genetic Position: Chr13, 49.22 cM
Alliance: Ap3b1m2Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsENU-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. (J:264641)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Ap3b1 Mutation:  95 strains or lines available
References
Original:  J:264641 Reyna C, et al., Mutagenetix entry for bella. MGI Direct Data Submission. 2018;
All:  1 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
04/16/2024
MGI 6.23
The Jackson Laboratory