Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Hps5ru2-J
Name:	HPS5, biogenesis of lysosomal organelles complex 2 subunit 2; ruby-eye 2 Jackson
MGI ID:	MGI:1856147
Synonyms:	ru-2J, ru-2J, ru2J, ruby-type
Gene:	Hps5  Location: Chr7:46409890-46445488 bp, - strand  Genetic Position: Chr7, 30.56 cM
Alliance:	Hps5ru2-J page

Strain of Origin:

C57BL/6J

Allele Type:    Spontaneous Mutation:    Insertion   Mutation details: This spontaneous mutation was shown to be an allele of Hpsru-2 by complementation testing, and thus an allele of Hps5ru2. 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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

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

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