Bloc1s5^mu-J
Spontaneous Allele Detail

Summary

• Symbol: Bloc1s5^mu-J
• Name: biogenesis of lysosomal organelles complex-1, subunit 5, muted; muted Jackson
• MGI ID: MGI:1856107
• Gene: Bloc1s5 Location: Chr13:38786674-38821093 bp, - strand Genetic Position: Chr13, 18.35 cM
• Alliance: Bloc1s5^mu-J page

Mutation origin

• Strain of Origin: STOCK T(10;18)18H

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: The underlying mutation in this phenotypic mutant has been identified as a single base pair deletion (del+60G) within the first exon. The resulting frame-shift introduces a premature stop codon and predicts a truncated protein of 58 amino acids. (J:75830)
• Inheritance: Recessive

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Bloc1s5 Mutation: 16 strains or lines available

Notes

This remutation at the muted locus was found in a translocation stock at The Jackson Laboratory.

Other alleles of this gene serve as models for HERMANSKY-PUDLAK SYNDROME.

References

• Original: J:78379 The Jackson Laboratory Office of Genetic Resources, Registry of Remutations at The Jackson Laboratory, 1987-1988. MGI Direct Data Submission. 1987-1988
• All: 2 reference(s)