Hps5^ru2-J
Spontaneous Allele Detail

Summary

• Symbol: Hps5^ru2-J
• Name: HPS5, biogenesis of lysosomal organelles complex 2 subunit 2; ruby-eye 2 Jackson
• MGI ID: MGI:1856147
• Synonyms: ru-2^J, ru2^J, ru-2J, ruby-type
• Gene: Hps5 Location: Chr7:46409890-46445488 bp, - strand Genetic Position: Chr7, 30.56 cM
• Alliance: Hps5^ru2-J page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Spontaneous
• Mutation: Insertion
• Mutation details: This spontaneous mutation was shown to be an allele of Hps^ru-2 by complementation testing, and thus an allele of Hps5^ru2. Subsequent sequence analysis identified the replacement of G with TT in codon 757, putatively resulting in a frameshift mutation that precludes the translation of 311 carboxy terminal amino acids. Northern blot analysis indicated that the mutation did not affect the expression pattern of the gene. (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 Hps5 Mutation: 90 strains or lines available

References

• Original: J:13708 Eicher EM, et al., hz and mr alleles of ru-2. Mouse News Lett. 1977;56:42
• All: 7 reference(s)