Ap3b1^pe-rim2
Spontaneous Allele Detail

Summary

• Symbol: Ap3b1^pe-rim2
• Name: adaptor-related protein complex 3, beta 1 subunit; recombination induced remutation 2
• MGI ID: MGI:1857352
• Gene: Ap3b1 Location: Chr13:94495468-94702825 bp, + strand Genetic Position: Chr13, 49.22 cM
• Alliance: Ap3b1^pe-rim2 page

Abnormal eye pigmentation of the Ap3b1^pe-rim2/Ap3b1^pe-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 details: Arose 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

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

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: 96 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)