Ap3b1^pe-8J
Spontaneous Allele Detail

Summary

• Symbol: Ap3b1^pe-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
• Alliance: Ap3b1^pe-8J page

Mutation origin

• Strain of Origin: DBA/2J

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: The molecular lesion responsible for the phenotype in pe^8J 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

Expression

In Structures Affected by this Mutation:

1 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: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)