Hps3^coa-Btlr
Chemically induced Allele Detail

Summary

• Symbol: Hps3^coa-Btlr
• Name: HPS3, biogenesis of lysosomal organelles complex 2 subunit 1; cocoa Bruce Beutler
• MGI ID: MGI:3799709
• Synonyms: Hps3^m1Btlr, pam gray
• Gene: Hps3 Location: Chr3:20050109-20089478 bp, - strand Genetic Position: Chr3, 6.12 cM
• Alliance: Hps3^coa-Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This mutation, discovered among G3 progeny of an ENU-mutagenized male mouse, was mapped to Chromosome 3 and identified as a T-to-A transversion at nucleotide position 1815 of the gene, in the tenth of 17 total exons. It is predicted to truncate the protein after amino acid 599; if this abbreviated protein is expressed, it would retain the clathrin-binding domain and the majority of the tyrosine-based intracellular sorting signals. (J:137495)
• 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. Mutants for the present allele have not been studied in this context.

References

• Original: J:137495 Siggs OM, et al., Record for "pam gray", updated 23rd of July, 2008. MGI Direct Data Submission. 2008
• All: 1 reference(s)