Hps5^ru2-hz
Spontaneous Allele Detail

Summary

• Symbol: Hps5^ru2-hz
• Name: HPS5, biogenesis of lysosomal organelles complex 2 subunit 2; haze
• MGI ID: MGI:1856145
• Synonyms: hz, ru-2^hz, ru2^hz
• Gene: Hps5 Location: Chr7:46409890-46445488 bp, - strand Genetic Position: Chr7, 30.56 cM
• Alliance: Hps5^ru2-hz page

Mutation origin

• Strain of Origin: DBA/2J

Mutation description

• Allele Type: Spontaneous
• Mutation: Insertion
• Mutation details: This allele was initially shown to be allelic to Hps5^ru2 and Hps5^ru2-mr by complementation testing. The insertion of CCGG in codon 900 was identified by sequence analysis and putatively results in a frameshift mutation that precludes the translation of 118 carboxy terminal amino acids. (J:13708, 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

Notes

Shown to be an allele of the maroon mutation and later both were shown to be alleles of ru2.

References

• Original: J:15055 Dickie MM, Haze. Mouse News Lett. 1965;32:44
• All: 6 reference(s)