Hps6^ru-3J
Spontaneous Allele Detail

Summary

• Symbol: Hps6^ru-3J
• Name: HPS6, biogenesis of lysosomal organelles complex 2 subunit 3; ruby-eye 3 Jackson
• MGI ID: MGI:1856545
• Synonyms: ru^3J
• Gene: Hps6 Location: Chr19:45991947-45994612 bp, + strand Genetic Position: Chr19, 38.75 cM
• Alliance: Hps6^ru-3J page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: A transition point mutation (c.1736G>A) generated a nonsense mutation at tryptophan codon 579 (p.W579*), putatively resulting in the truncation of 227 carboxy terminal amino acids. (J:81444)
• 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 Hps6 Mutation: 28 strains or lines available

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)