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Hps5ru2-hz
Spontaneous Allele Detail
Nomenclature
Symbol: Hps5ru2-hz
Name: Hermansky-Pudlak syndrome 5 homolog (human); haze
MGI ID: MGI:1856145
Synonyms: hz, ru-2hz, ru2hz
Gene: Hps5  Location: Chr7:46760466-46796064 bp, - strand  Genetic Position: Chr7, 30.56 cM
Mutation
origin
Strain of Origin:  DBA/2J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Insertion
 
Mutation detailsThis 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
Phenotypes
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Disease models
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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:  57 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/20/2015
MGI 5.21
The Jackson Laboratory