Hps6^ru
Spontaneous Allele Detail

Summary

• Symbol: Hps6^ru
• Name: HPS6, biogenesis of lysosomal organelles complex 2 subunit 3; ruby-eye
• MGI ID: MGI:1856544
• Synonyms: ru
• Gene: Hps6 Location: Chr19:45991947-45994612 bp, + strand Genetic Position: Chr19, 38.75 cM
• Alliance: Hps6^ru page

Mutation origin

• Strain of Origin: Danforth's Stock a Pmel^si Ednrb^s

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: Sequence analysis identified an in frame deletion of codons 187, 188, and 189 encoding histidine, cysteine, and proline, respectively. (J:81444)
• Inheritance: Recessive

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Hps6 Mutation: 28 strains or lines available

References

• Original: J:13122 Dunn LC, A New Eye Color Mutant in the Mouse with Asymmetrical Expression. Proc Natl Acad Sci U S A. 1945 Nov;31(11):343-6
• All: 34 reference(s)