Hps6^ru-6J
Spontaneous Allele Detail

Summary

• Symbol: Hps6^ru-6J
• Name: HPS6, biogenesis of lysosomal organelles complex 2 subunit 3; ruby-eye 6 Jackson
• MGI ID: MGI:1856410
• Synonyms: ru^6J
• Gene: Hps6 Location: Chr19:45991947-45994612 bp, + strand Genetic Position: Chr19, 38.75 cM
• Alliance: Hps6^ru-6J page

Mutation origin

• Strain of Origin: C3H/HeJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Transposon insertion
• Mutation details: An intracisternal A particle (IAP) approximately 5.3 kb in length was identified at codon 108. Northern blot analysis indicated highly reduced expression in kidney tissue. (J:81444)
• Inheritance: Recessive

Disease models

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Hps6 Mutation: 28 strains or lines available

Notes

ru^6J, ruby-eye 6J, recessive. Arising in the C3H/HeJ strain, this mutation was proven to be an Hps6 remutation by complementation test. DNA and embryos will be preserved (J:29157).

References

• Original: J:29157 Cook S, Spontaneous remutation (ru^6J). Mouse Genome. 1995;93(3):862
• All: 4 reference(s)