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Ap3b1pe
Spontaneous Allele Detail
Nomenclature
Symbol: Ap3b1pe
Name: adaptor-related protein complex 3, beta 1 subunit; pearl
MGI ID: MGI:1856989
Synonyms: Ap3b1pearl, pe
Gene: Ap3b1  Location: Chr13:94358960-94566317 bp, + strand  Genetic Position: Chr13, 49.22 cM
Wild-type control mouse (right) with Ap3b1pe/Ap3b1pe (left).

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C3H/He
Mutation
description
Allele Type:    Spontaneous
Mutation:    Duplication
  Ap3b1pe involves 1 genes/genome features (Ap3b1) View all
 
Mutation detailsThe molecular mutation consists of a 793 bp tandem duplication that alters the reading frame and truncates the protein 130 amino acids from the C terminus. (J:52879, J:65643)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 15 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 4 strains available      Cell Lines: 0 lines available
Carrying any Ap3b1 Mutation:  23 strains or lines available
References
Original:  J:15331 Sarvella PA, Pearl, a new spontaneous coat and eye color mutation in the house mouse. J Hered. 1954;45:19-20
All:  49 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/10/2018
MGI 6.12
The Jackson Laboratory