About   Help   FAQ
Ap3b1pe-rim2
Spontaneous Allele Detail
Nomenclature
Symbol: Ap3b1pe-rim2
Name: adaptor-related protein complex 3, beta 1 subunit; recombination induced remutation 2
MGI ID: MGI:1857352
Gene: Ap3b1  Location: Chr13:94358960-94566317 bp, + strand  Genetic Position: Chr13, 49.22 cM
Abnormal eye pigmentation of the Ap3b1pe-rim2/Ap3b1pe-rim2 mouse.

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  B10.A(R201)
Mutation
description
Allele Type:    Spontaneous
Mutation:    Undefined
 
Mutation detailsArose spontaneously in the B10.A(R201) strain in 1985. A non-complementation test confirmed that this mutation is allelic to the pearl mutation. The molecular lesion in this allele has not yet been resolved.
Inheritance:    Recessive
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 3 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:  67 strains or lines available
References
Original:  J:42685 Sagai T, et al., rim2 (recombination induced mutation 2) is a new allele of pearl and a mouse model of human Hermansky-Pudlak Syndrome (HPS): genetic and physical mapping. Mamm Genome. 1997;9(1):2-7
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
06/12/2018
MGI 6.12
The Jackson Laboratory