Hps1^ep-6J
Spontaneous Allele Detail

Summary

• Symbol: Hps1^ep-6J
• Name: HPS1, biogenesis of lysosomal organelles complex 3 subunit 1; pale ear 6 Jackson
• MGI ID: MGI:1856711
• Synonyms: ep^6J
• Gene: Hps1 Location: Chr19:42743544-42768417 bp, - strand Genetic Position: Chr19, 36.56 cM
• Alliance: Hps1^ep-6J page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Spontaneous
• Mutations: Insertion, Intragenic deletion
• Mutation details: This allele was identified by a noncomplementation test with Hps1^ep. Direct DNA sequence analysis showed a complex 23 bp deletion/3 bp insertion in exon 17 of the Hps1 gene that introduced a translation terminator. In exon 19 there was a 7 bp duplication flanking an intracisternal A element with the long terminal repeats in the antisense transcriptional orientation. (J:40195)
• 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: 0 strains available Cell Lines: 0 lines available
• Carrying any Hps1 Mutation: 35 strains or lines available

Notes

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

References

• Original: J:27518 Sweet HO, Remutation - ep^6J. Mouse Genome. 1994;92:672
• All: 2 reference(s)