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Ap3b1pe-8J
Spontaneous Allele Detail
Nomenclature
Symbol: Ap3b1pe-8J
Name: adaptor-related protein complex 3, beta 1 subunit; pearl 8 Jackson
MGI ID: MGI:1857676
Gene: Ap3b1  Location: Chr13:94495468-94702825 bp, + strand  Genetic Position: Chr13, 49.22 cM
Mutation
origin
Strain of Origin:  DBA/2J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsThe molecular lesion responsible for the phenotype in pe8J mice consists of a 107-bp deletion in the Ap3b1 gene that alters the reading frame and produces a premature termination site. This results in the addition of 12 novel amino acids followed by a truncation eliminating 233 amino acids from the carboxy terminus. (J:52879, J:65643)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 anatomical structures
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:  74 strains or lines available
References
Original:  J:52879 Feng L, et al., The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness. Hum Mol Genet. 1999 Feb;8(2):323-30
All:  5 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
11/23/2021
MGI 6.17
The Jackson Laboratory