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Ap3b1pe-9J
Spontaneous Allele Detail
Summary
Symbol: Ap3b1pe-9J
Name: adaptor-related protein complex 3, beta 1 subunit; pearl 9 Jackson
MGI ID: MGI:1857715
Gene: Ap3b1  Location: Chr13:94495468-94702825 bp, + strand  Genetic Position: Chr13, 49.22 cM
Alliance: Ap3b1pe-9J page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsRT-PCR analysis revealed an 867-bp in-frame deletion in the 5' part of the transcript. This deletion is predicted to result in a deletion of 289 amino acids, corresponding to approximately one third of the normal protein product. The encoded protein was not detected by Western blotting of protein extracts derived from kidney of mutant mice. (J:65643)
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
Notes
Arose spontaneously as a remutation on the C57BL/6J strain at The Jackson Laboratory (J:52521). Homozygotes have an external phenotype similar to the original mutant Ap3b1pe (J:52521)
References
Original:  J:52521 Harris BS, The Jackson Laboratory Mouse Mutant Resource 1999 Mutation Reports. MGI Direct Data Submission. 1999;
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
04/16/2024
MGI 6.23
The Jackson Laboratory