Hps3^coa-3J
Spontaneous Allele Detail

Summary

• Symbol: Hps3^coa-3J
• Name: HPS3, biogenesis of lysosomal organelles complex 2 subunit 1; cocoa 3 Jackson
• MGI ID: MGI:1856708
• Gene: Hps3 Location: Chr3:20050109-20089478 bp, - strand Genetic Position: Chr3, 6.12 cM
• Alliance: Hps3^coa-3J page

Mutation origin

• Strain of Origin: B10.BR/SgSnJ-H2^k2 Fas^lpr

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: The underlying mutation responsible for the phenotype in the coa^3J mouse was identified as a 22 bp deletion between codons 474 and 481, which results in a frameshift. (J:72606)
• 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 Hps3 Mutation: 54 strains or lines available

Notes

Other alleles of this gene serve as models for HERMANSKY-PUDLAK SYNDROME. This allele was never studied in this context.

References

• Original: J:30778 Sweet HO, et al., Remutations at The Jackson Laboratory (Update to Mouse Genome 1993; 91:862-5 - J16313). Mouse Genome. 1995;93(4):1030-4
• All: 3 reference(s)