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

Symbol:	Hps5ru2-hz
Name:	HPS5, biogenesis of lysosomal organelles complex 2 subunit 2; haze
MGI ID:	MGI:1856145
Synonyms:	hz, ru-2hz, ru2hz
Gene:	Hps5  Location: Chr7:46409890-46445488 bp, - strand  Genetic Position: Chr7, 30.56 cM
Alliance:	Hps5ru2-hz page

Strain of Origin:

DBA/2J

Allele Type:    Spontaneous Mutation:    Insertion   Mutation details: This allele was initially shown to be allelic to Hps5ru2 and Hps5ru2-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

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