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Spontaneous Allele Detail
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.

Strain of Origin:  B10.A(R201)
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
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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:  65 strains or lines available
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
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MGI 6.10
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